KAL1 Gene

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Ke-ita Tatsumi - One of the best experts on this subject based on the ideXlab platform.

  • Analysis of the KAL1 Gene in 19 Japanese patients with Kallmann syndrome.
    Endocrine Journal, 2001
    Co-Authors: Yukiko Izumi, Shingo Okamoto, Akiko Hosokawa, Ke-ita Tatsumi, Hiroshi Fukui, Takeshi Matsuo, Yuzuru Kato, Toru Ogawa, Nobuyuki Amino
    Abstract:

    Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. The KAL1 Gene is responsible for the X-linked form of Kallmann syndrome. We analyzed the KAL1 Gene in 19 Japanese patients with Kallmann syndrome, including 3 patients reported previously, using PCR-direct sequencing method. All of 19 patients were sporadic, except for 2 monozygotic twins. In this study, there were 3 kinds of mutations in the KAL1 Gene. One of them was a novel mutation consisting of a G to A substitution in the acceptor site at the junction of intron 6/exon 7. None of the mutations have been reported in countries other than Japan. In male sporadic patients with Kallmann syndrome, the incidence of mutations in Japanese patients (14%: 2 of 14 cases) was slightly higher than that in patients in USA (8%). Also, we found 2 polymorphisms, which were always found together in 6 patients.The severity of hypogonadism was not related to the presence of mutations. Unilateral renal aplasia and mirror movement, which are frequently found in patients with the KAL1 Gene mutation, were not related to the sites of mutations.

  • A novel mutation of the KAL1 Gene in monozygotic twins with Kallmann syndrome.
    European Journal of Endocrinology, 2000
    Co-Authors: Takeshi Matsuo, Shingo Okamoto, Yukiko Izumi, Akiko Hosokawa, Takashi Takegawa, Katsuya Honda, Ryoji Matoba, Hiroshi Fukui, Ke-ita Tatsumi
    Abstract:

    Objective: Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. The KAL1 Gene is responsible for the X-linked form of Kallmann syndrome. In this study we describe monozygotic twins with Kallmann syndrome due to the same mutation in the KAL1 Gene. Design: We studied male monozygotic twins with Kallmann syndrome. Methods: We analyzed the KAL1 Gene using the PCR-direct sequencing method. The twins’ mother was examined for the identified mutation. Results: We identified a 14 bp deletion from codon 419 in exon 9 (Pro419del14) in both KAL1 Genes of the twins. This was a novel mutation in the KAL1 Gene and was responsible for Kallmann syndrome. As Pro419del14 was not detected in the mother of the twins, Pro419del14 was a germline mutation originating from them. These monozygotic twins showed different LH and FSH responses to LH‐RH stimulation and different phenotypes such as complications, physiques and psychiatric characters. Conclusions: We report an identical KAL1 Gene mutation in the monozygotic twins with Kallmann syndrome. As these monozygotic twins showed different phenotypes in some respects, we suggest that factors other than mutations in the KAL1Gene affect the symptomatic features of Kallmann syndrome.

  • A Novel Mutation of the KAL1 Gene in Kallmann Syndrome
    Endocrine Journal, 1999
    Co-Authors: Yukiko Izumi, Shingo Okamoto, Akiko Hosokawa, Ke-ita Tatsumi, Hiroshi Fukui, Satoshi Ueno, Nobuyuki Amino
    Abstract:

    Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia, for which three modes of transmission have been described: X-linked, autosomal recessive and autosomal dominant. The KAL1 Gene, responsible for the X-linked form of the disease, has been isolated and its intron-exon organization determined. We report sequence analysis using PCR-direct sequencing method of the entire coding region and splice site junctions of the KAL1 Gene in three males with Kallmann syndrome. We found a novel mutation in one case and no mutation in the other two cases. The mutation consisted of a C to T substitution in exon 1 converting codon 66 (CAG) encoding glutamine into a termination codon (TAG)/(Q66X). As a consequence of this mutation, the function of the KAL1 protein consisting of 680 amino acids was severely truncated so as to be consistent with Kallmann syndrome. As only this patient had unilateral renal hypoplasia among the three cases, this would suggest the existence of KAL1 Gene mutation in this abnormality.

Fernando Castro - One of the best experts on this subject based on the ideXlab platform.

  • ANOS1: a unified nomenclature for Kallmann syndrome 1 Gene (KAL1) and anosmin-1
    'Oxford University Press (OUP)', 2020
    Co-Authors: Fernando Castro, Seal Ruth, Maggi Roberto
    Abstract:

    It is accepted that confusion regarding the description of Genetic variants occurs when researchers do not use standard nomenclature. The Human Genome Organization Gene Nomenclature Committee contacted a panel of consultants, all working on the KAL1 Gene, to propose an update of the nomenclature of the Gene, as there was a convention in the literature of using the ‘KAL1’ symbol, when referring to the Gene, but using the name ‘anosmin-1’ when referring to the protein. The new name, ANOS1, reflects protein name and is more transferrable across species.This work was supported by grants from the Spanish Ministerio de Economia y Competitividad-MINECO (SAF2012-40023 and RD12-0032-12) and Consejo Superior de Investigaciones Científicas-CSIC (CSIC-2015201023) to F.dC., from National Human Genome Research Institute (U41HG003345) and Wellcome Trust (099129/Z/12/Z) to R.S. and from Fondazione Telethon (E.523) and Ministero dell’Istruzione Universitá e Ricerca (MIUR) to R.M

  • ANOS1: a unified nomenclature for Kallmann syndrome 1 Gene (KAL1) and anosmin-1.
    Briefings in functional genomics, 2016
    Co-Authors: Fernando Castro, Ruth Seal, Roberto Maggi
    Abstract:

    It is accepted that confusion regarding the description of Genetic variants occurs when researchers do not use standard nomenclature. The Human Genome Organization Gene Nomenclature Committee contacted a panel of consultants, all working on the KAL1 Gene, to propose an update of the nomenclature of the Gene, as there was a convention in the literature of using the 'KAL1' symbol, when referring to the Gene, but using the name 'anosmin-1' when referring to the protein. The new name, ANOS1, reflects protein name and is more transferrable across species.

  • the adhesion molecule anosmin 1 in neurology kallmann syndrome and beyond
    Advances in neurobiology, 2014
    Co-Authors: Fernando Castro, Veronica Murciabelmonte, Pedro F. Esteban, Diego Garciagonzalez, Ana Bribian, Diego Clemente
    Abstract:

    Anosmin-1 is the glycoprotein encoded by the KAL1 Gene and part of the extracellular matrix, which was first identified as defective in human Kallmann syndrome (KS, characterised by hypogonadotropic hypogonadism and anosmia); biochemically it is a cell adhesion protein. The meticulous biochemical dissection of the anosmin-1 domains has identified which domains are necessary for the protein to bind its different partners to display its biological effects. Research in the last decade has unravelled different roles of anosmin-1 during CNS development (axon pathfinding, axonal collateralisation, cell motility and migration), some of them intimately related with the cited KS but not only with this. More recently, anosmin-1 has been identified in other pathological scenarios both within (multiple sclerosis) and outside (cancer, atopic dermatitis) the CNS.

  • The cysteine-rich region and the whey acidic protein domain are essential for anosmin-1 biological functions.
    Journal of neurochemistry, 2012
    Co-Authors: Pedro F. Esteban, Verónica Murcia-belmonte, Diego García-gonzález, Fernando Castro
    Abstract:

    The protein anosmin-1, coded by the KAL1 Gene responsible for the X-linked form of Kallmann syndrome (KS), exerts its biological effects mainly through the interaction with and signal modulation of fibroblast growth factor receptor 1 (FGFR1). We have previously shown the interaction of the third fibronectin-like type 3 (FnIII) domain and the N-terminal region of anosmin-1 with FGFR1. Here, we demonstrate that missense mutations reported in patients with KS, C172R and N267K did not alter or substantially reduce, respectively, the binding to FGFR1. These substitutions annulled the chemoattraction of the full-length protein over subventricular zone (SVZ) neuronal precursors (NPs), but they did not annul it in the N-terminal-truncated protein (A1Nt). We also show that although not essential for binding to FGFR1, the cysteine-rich (CR) region is necessary for anosmin-1 function and that FnIII.3 cannot substitute for FnIII.1 function. Truncated proteins recapitulating nonsense mutations found in KS patients did not show the chemotropic effect on SVZ NPs, suggesting that the presence behind FnIII.1 of any part of anosmin-1 produces an unstable protein incapable of action. We also identify the extracellular signal-regulated kinase 1/2 (ERK1/2) pathway as necessary for the chemotropic effect exerted by FGF2 and anosmin-1 on rat SVZ NPs.

Yukiko Izumi - One of the best experts on this subject based on the ideXlab platform.

  • CLINICAL STUDY A novel mutation of the KAL1 Gene in monozygotic twins with
    2015
    Co-Authors: Kallmann Syndrome, Shingo Okamoto, Yukiko Izumi, Akiko Hosokawa, Takashi Takegawa, Katsuya Honda, Hiroshi Fukui, Takeshi Matsuo, Zaw Tun, Ryoji Matoba
    Abstract:

    Objective: Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. The KAL1 Gene is responsible for the X-linked form of Kallmann syndrome. In this study we describe monozygotic twins with Kallmann syndrome due to the same mutation in the KAL1 Gene. Design: We studied male monozygotic twins with Kallmann syndrome. Methods: We analyzed the KAL1 Gene using the PCR-direct sequencing method. The twins ' mother was examined for the identified mutation. Results: We identified a 14 bp deletion from codon 419 in exon 9 (Pro419del14) in both KAL1 Genes of the twins. This was a novel mutation in the KAL1 Gene and was responsible for Kallmann syndrome. As Pro419del14 was not detected in the mother of the twins, Pro419del14 was a germline mutation originating from them. These monozygotic twins showed different LH and FSH responses to LH±RH stimulation and different phenotypes such as complications, physiques and psychiatric characters. Conclusions: We report an identical KAL1 Gene mutation in the monozygotic twins with Kallmann syndrome. As these monozygotic twins showed different phenotypes in some respects, we suggest that factors other than mutations in the KAL1Gene affect the symptomatic features of Kallmann syndrome. European Journal of Endocrinology 143 783±78

  • Analysis of the KAL1 Gene in 19 Japanese patients with Kallmann syndrome.
    Endocrine Journal, 2001
    Co-Authors: Yukiko Izumi, Shingo Okamoto, Akiko Hosokawa, Ke-ita Tatsumi, Hiroshi Fukui, Takeshi Matsuo, Yuzuru Kato, Toru Ogawa, Nobuyuki Amino
    Abstract:

    Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. The KAL1 Gene is responsible for the X-linked form of Kallmann syndrome. We analyzed the KAL1 Gene in 19 Japanese patients with Kallmann syndrome, including 3 patients reported previously, using PCR-direct sequencing method. All of 19 patients were sporadic, except for 2 monozygotic twins. In this study, there were 3 kinds of mutations in the KAL1 Gene. One of them was a novel mutation consisting of a G to A substitution in the acceptor site at the junction of intron 6/exon 7. None of the mutations have been reported in countries other than Japan. In male sporadic patients with Kallmann syndrome, the incidence of mutations in Japanese patients (14%: 2 of 14 cases) was slightly higher than that in patients in USA (8%). Also, we found 2 polymorphisms, which were always found together in 6 patients.The severity of hypogonadism was not related to the presence of mutations. Unilateral renal aplasia and mirror movement, which are frequently found in patients with the KAL1 Gene mutation, were not related to the sites of mutations.

  • A novel mutation of the KAL1 Gene in monozygotic twins with Kallmann syndrome.
    European Journal of Endocrinology, 2000
    Co-Authors: Takeshi Matsuo, Shingo Okamoto, Yukiko Izumi, Akiko Hosokawa, Takashi Takegawa, Katsuya Honda, Ryoji Matoba, Hiroshi Fukui, Ke-ita Tatsumi
    Abstract:

    Objective: Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. The KAL1 Gene is responsible for the X-linked form of Kallmann syndrome. In this study we describe monozygotic twins with Kallmann syndrome due to the same mutation in the KAL1 Gene. Design: We studied male monozygotic twins with Kallmann syndrome. Methods: We analyzed the KAL1 Gene using the PCR-direct sequencing method. The twins’ mother was examined for the identified mutation. Results: We identified a 14 bp deletion from codon 419 in exon 9 (Pro419del14) in both KAL1 Genes of the twins. This was a novel mutation in the KAL1 Gene and was responsible for Kallmann syndrome. As Pro419del14 was not detected in the mother of the twins, Pro419del14 was a germline mutation originating from them. These monozygotic twins showed different LH and FSH responses to LH‐RH stimulation and different phenotypes such as complications, physiques and psychiatric characters. Conclusions: We report an identical KAL1 Gene mutation in the monozygotic twins with Kallmann syndrome. As these monozygotic twins showed different phenotypes in some respects, we suggest that factors other than mutations in the KAL1Gene affect the symptomatic features of Kallmann syndrome.

  • A Novel Mutation of the KAL1 Gene in Kallmann Syndrome
    Endocrine Journal, 1999
    Co-Authors: Yukiko Izumi, Shingo Okamoto, Akiko Hosokawa, Ke-ita Tatsumi, Hiroshi Fukui, Satoshi Ueno, Nobuyuki Amino
    Abstract:

    Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia, for which three modes of transmission have been described: X-linked, autosomal recessive and autosomal dominant. The KAL1 Gene, responsible for the X-linked form of the disease, has been isolated and its intron-exon organization determined. We report sequence analysis using PCR-direct sequencing method of the entire coding region and splice site junctions of the KAL1 Gene in three males with Kallmann syndrome. We found a novel mutation in one case and no mutation in the other two cases. The mutation consisted of a C to T substitution in exon 1 converting codon 66 (CAG) encoding glutamine into a termination codon (TAG)/(Q66X). As a consequence of this mutation, the function of the KAL1 protein consisting of 680 amino acids was severely truncated so as to be consistent with Kallmann syndrome. As only this patient had unilateral renal hypoplasia among the three cases, this would suggest the existence of KAL1 Gene mutation in this abnormality.

Hiroshi Fukui - One of the best experts on this subject based on the ideXlab platform.

  • CLINICAL STUDY A novel mutation of the KAL1 Gene in monozygotic twins with
    2015
    Co-Authors: Kallmann Syndrome, Shingo Okamoto, Yukiko Izumi, Akiko Hosokawa, Takashi Takegawa, Katsuya Honda, Hiroshi Fukui, Takeshi Matsuo, Zaw Tun, Ryoji Matoba
    Abstract:

    Objective: Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. The KAL1 Gene is responsible for the X-linked form of Kallmann syndrome. In this study we describe monozygotic twins with Kallmann syndrome due to the same mutation in the KAL1 Gene. Design: We studied male monozygotic twins with Kallmann syndrome. Methods: We analyzed the KAL1 Gene using the PCR-direct sequencing method. The twins ' mother was examined for the identified mutation. Results: We identified a 14 bp deletion from codon 419 in exon 9 (Pro419del14) in both KAL1 Genes of the twins. This was a novel mutation in the KAL1 Gene and was responsible for Kallmann syndrome. As Pro419del14 was not detected in the mother of the twins, Pro419del14 was a germline mutation originating from them. These monozygotic twins showed different LH and FSH responses to LH±RH stimulation and different phenotypes such as complications, physiques and psychiatric characters. Conclusions: We report an identical KAL1 Gene mutation in the monozygotic twins with Kallmann syndrome. As these monozygotic twins showed different phenotypes in some respects, we suggest that factors other than mutations in the KAL1Gene affect the symptomatic features of Kallmann syndrome. European Journal of Endocrinology 143 783±78

  • Analysis of the KAL1 Gene in 19 Japanese patients with Kallmann syndrome.
    Endocrine Journal, 2001
    Co-Authors: Yukiko Izumi, Shingo Okamoto, Akiko Hosokawa, Ke-ita Tatsumi, Hiroshi Fukui, Takeshi Matsuo, Yuzuru Kato, Toru Ogawa, Nobuyuki Amino
    Abstract:

    Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. The KAL1 Gene is responsible for the X-linked form of Kallmann syndrome. We analyzed the KAL1 Gene in 19 Japanese patients with Kallmann syndrome, including 3 patients reported previously, using PCR-direct sequencing method. All of 19 patients were sporadic, except for 2 monozygotic twins. In this study, there were 3 kinds of mutations in the KAL1 Gene. One of them was a novel mutation consisting of a G to A substitution in the acceptor site at the junction of intron 6/exon 7. None of the mutations have been reported in countries other than Japan. In male sporadic patients with Kallmann syndrome, the incidence of mutations in Japanese patients (14%: 2 of 14 cases) was slightly higher than that in patients in USA (8%). Also, we found 2 polymorphisms, which were always found together in 6 patients.The severity of hypogonadism was not related to the presence of mutations. Unilateral renal aplasia and mirror movement, which are frequently found in patients with the KAL1 Gene mutation, were not related to the sites of mutations.

  • A novel mutation of the KAL1 Gene in monozygotic twins with Kallmann syndrome.
    European Journal of Endocrinology, 2000
    Co-Authors: Takeshi Matsuo, Shingo Okamoto, Yukiko Izumi, Akiko Hosokawa, Takashi Takegawa, Katsuya Honda, Ryoji Matoba, Hiroshi Fukui, Ke-ita Tatsumi
    Abstract:

    Objective: Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. The KAL1 Gene is responsible for the X-linked form of Kallmann syndrome. In this study we describe monozygotic twins with Kallmann syndrome due to the same mutation in the KAL1 Gene. Design: We studied male monozygotic twins with Kallmann syndrome. Methods: We analyzed the KAL1 Gene using the PCR-direct sequencing method. The twins’ mother was examined for the identified mutation. Results: We identified a 14 bp deletion from codon 419 in exon 9 (Pro419del14) in both KAL1 Genes of the twins. This was a novel mutation in the KAL1 Gene and was responsible for Kallmann syndrome. As Pro419del14 was not detected in the mother of the twins, Pro419del14 was a germline mutation originating from them. These monozygotic twins showed different LH and FSH responses to LH‐RH stimulation and different phenotypes such as complications, physiques and psychiatric characters. Conclusions: We report an identical KAL1 Gene mutation in the monozygotic twins with Kallmann syndrome. As these monozygotic twins showed different phenotypes in some respects, we suggest that factors other than mutations in the KAL1Gene affect the symptomatic features of Kallmann syndrome.

  • A Novel Mutation of the KAL1 Gene in Kallmann Syndrome
    Endocrine Journal, 1999
    Co-Authors: Yukiko Izumi, Shingo Okamoto, Akiko Hosokawa, Ke-ita Tatsumi, Hiroshi Fukui, Satoshi Ueno, Nobuyuki Amino
    Abstract:

    Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia, for which three modes of transmission have been described: X-linked, autosomal recessive and autosomal dominant. The KAL1 Gene, responsible for the X-linked form of the disease, has been isolated and its intron-exon organization determined. We report sequence analysis using PCR-direct sequencing method of the entire coding region and splice site junctions of the KAL1 Gene in three males with Kallmann syndrome. We found a novel mutation in one case and no mutation in the other two cases. The mutation consisted of a C to T substitution in exon 1 converting codon 66 (CAG) encoding glutamine into a termination codon (TAG)/(Q66X). As a consequence of this mutation, the function of the KAL1 protein consisting of 680 amino acids was severely truncated so as to be consistent with Kallmann syndrome. As only this patient had unilateral renal hypoplasia among the three cases, this would suggest the existence of KAL1 Gene mutation in this abnormality.

Shingo Okamoto - One of the best experts on this subject based on the ideXlab platform.

  • CLINICAL STUDY A novel mutation of the KAL1 Gene in monozygotic twins with
    2015
    Co-Authors: Kallmann Syndrome, Shingo Okamoto, Yukiko Izumi, Akiko Hosokawa, Takashi Takegawa, Katsuya Honda, Hiroshi Fukui, Takeshi Matsuo, Zaw Tun, Ryoji Matoba
    Abstract:

    Objective: Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. The KAL1 Gene is responsible for the X-linked form of Kallmann syndrome. In this study we describe monozygotic twins with Kallmann syndrome due to the same mutation in the KAL1 Gene. Design: We studied male monozygotic twins with Kallmann syndrome. Methods: We analyzed the KAL1 Gene using the PCR-direct sequencing method. The twins ' mother was examined for the identified mutation. Results: We identified a 14 bp deletion from codon 419 in exon 9 (Pro419del14) in both KAL1 Genes of the twins. This was a novel mutation in the KAL1 Gene and was responsible for Kallmann syndrome. As Pro419del14 was not detected in the mother of the twins, Pro419del14 was a germline mutation originating from them. These monozygotic twins showed different LH and FSH responses to LH±RH stimulation and different phenotypes such as complications, physiques and psychiatric characters. Conclusions: We report an identical KAL1 Gene mutation in the monozygotic twins with Kallmann syndrome. As these monozygotic twins showed different phenotypes in some respects, we suggest that factors other than mutations in the KAL1Gene affect the symptomatic features of Kallmann syndrome. European Journal of Endocrinology 143 783±78

  • Analysis of the KAL1 Gene in 19 Japanese patients with Kallmann syndrome.
    Endocrine Journal, 2001
    Co-Authors: Yukiko Izumi, Shingo Okamoto, Akiko Hosokawa, Ke-ita Tatsumi, Hiroshi Fukui, Takeshi Matsuo, Yuzuru Kato, Toru Ogawa, Nobuyuki Amino
    Abstract:

    Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. The KAL1 Gene is responsible for the X-linked form of Kallmann syndrome. We analyzed the KAL1 Gene in 19 Japanese patients with Kallmann syndrome, including 3 patients reported previously, using PCR-direct sequencing method. All of 19 patients were sporadic, except for 2 monozygotic twins. In this study, there were 3 kinds of mutations in the KAL1 Gene. One of them was a novel mutation consisting of a G to A substitution in the acceptor site at the junction of intron 6/exon 7. None of the mutations have been reported in countries other than Japan. In male sporadic patients with Kallmann syndrome, the incidence of mutations in Japanese patients (14%: 2 of 14 cases) was slightly higher than that in patients in USA (8%). Also, we found 2 polymorphisms, which were always found together in 6 patients.The severity of hypogonadism was not related to the presence of mutations. Unilateral renal aplasia and mirror movement, which are frequently found in patients with the KAL1 Gene mutation, were not related to the sites of mutations.

  • A novel mutation of the KAL1 Gene in monozygotic twins with Kallmann syndrome.
    European Journal of Endocrinology, 2000
    Co-Authors: Takeshi Matsuo, Shingo Okamoto, Yukiko Izumi, Akiko Hosokawa, Takashi Takegawa, Katsuya Honda, Ryoji Matoba, Hiroshi Fukui, Ke-ita Tatsumi
    Abstract:

    Objective: Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. The KAL1 Gene is responsible for the X-linked form of Kallmann syndrome. In this study we describe monozygotic twins with Kallmann syndrome due to the same mutation in the KAL1 Gene. Design: We studied male monozygotic twins with Kallmann syndrome. Methods: We analyzed the KAL1 Gene using the PCR-direct sequencing method. The twins’ mother was examined for the identified mutation. Results: We identified a 14 bp deletion from codon 419 in exon 9 (Pro419del14) in both KAL1 Genes of the twins. This was a novel mutation in the KAL1 Gene and was responsible for Kallmann syndrome. As Pro419del14 was not detected in the mother of the twins, Pro419del14 was a germline mutation originating from them. These monozygotic twins showed different LH and FSH responses to LH‐RH stimulation and different phenotypes such as complications, physiques and psychiatric characters. Conclusions: We report an identical KAL1 Gene mutation in the monozygotic twins with Kallmann syndrome. As these monozygotic twins showed different phenotypes in some respects, we suggest that factors other than mutations in the KAL1Gene affect the symptomatic features of Kallmann syndrome.

  • A Novel Mutation of the KAL1 Gene in Kallmann Syndrome
    Endocrine Journal, 1999
    Co-Authors: Yukiko Izumi, Shingo Okamoto, Akiko Hosokawa, Ke-ita Tatsumi, Hiroshi Fukui, Satoshi Ueno, Nobuyuki Amino
    Abstract:

    Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia, for which three modes of transmission have been described: X-linked, autosomal recessive and autosomal dominant. The KAL1 Gene, responsible for the X-linked form of the disease, has been isolated and its intron-exon organization determined. We report sequence analysis using PCR-direct sequencing method of the entire coding region and splice site junctions of the KAL1 Gene in three males with Kallmann syndrome. We found a novel mutation in one case and no mutation in the other two cases. The mutation consisted of a C to T substitution in exon 1 converting codon 66 (CAG) encoding glutamine into a termination codon (TAG)/(Q66X). As a consequence of this mutation, the function of the KAL1 protein consisting of 680 amino acids was severely truncated so as to be consistent with Kallmann syndrome. As only this patient had unilateral renal hypoplasia among the three cases, this would suggest the existence of KAL1 Gene mutation in this abnormality.