The Experts below are selected from a list of 279 Experts worldwide ranked by ideXlab platform
Stavit A Shalev - One of the best experts on this subject based on the ideXlab platform.
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novel mutation in tspan12 leads to Autosomal Recessive Inheritance of congenital vitreoretinal disease with intra familial phenotypic variability
American Journal of Medical Genetics Part A, 2014Co-Authors: Moran Gal, Erez Y Levanon, Yasir Hujeirat, Morad Khayat, Jacob Peer, Stavit A ShalevAbstract:Developmental malformations of the vitreoretinal vasculature are a heterogeneous group of conditions with various modes of Inheritance, and include familial exudative vitreoretinopathy (FEVR), persistent fetal vasculature (PFV), and Norrie disease. We investigated a large consanguineous kindred with multiple affected individuals exhibiting variable phenotypes of abnormal vitreoretinal vasculature, consistent with the three above-mentioned conditions and compatible with Autosomal Recessive Inheritance. Exome sequencing identified a novel c.542G > T (p.C181F) apparently mutation in the TSPAN12 gene that segregated with the ocular disease in the family. The TSPAN12 gene was previously reported to cause dominant and Recessive FEVR, but has not yet been associated with other vitreoretinal manifestations. The intra-familial clinical variability caused by a single mutation in the TSPAN12 gene underscores the complicated phenotype-genotype correlation of mutations in this gene, and suggests that there are additional genetic and environmental factors involved in the complex process of ocular vascularization during embryonic development. Our study supports considering PFV, FEVR, and Norrie disease a spectrum of disorders, with clinical and genetic overlap, caused by mutations in distinct genes acting in the Norrin/β-catenin signaling pathway. © 2014 Wiley Periodicals, Inc.
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Small‐platelet thrombocytopenia in a family with Autosomal Recessive Inheritance pattern
Pediatric Blood & Cancer, 2013Co-Authors: Carina Levin, Morad Khayat, Stavit A Shalev, Lucia Zalman, Hannah Tamary, Tanya Krasnov, Ihsan Salama, Ariel KorenAbstract:We describe the clinical and laboratory features of a family of Arab ancestry and consanguinity. Five affected individuals were diagnosed in two sibships. All affected members have small platelets, severe to moderate thrombocytopenia of neonatal onset, increased bleeding tendency and bleeding complications such as: life-threatening massive hemoperitoneum due to corpus luteum rupture during ovulation and severe mucosal bleeding. The familial involvement and early onset of the disease support the presence of a congenital genetic disorder with an Autosomal Recessive Inheritance pattern. This does not fit the clinical spectrum of any of the currently known thrombocytopenia disorders. Pediatr Blood Cancer 2013;60:E128–E130. © 2013 Wiley Periodicals, Inc.
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small platelet thrombocytopenia in a family with Autosomal Recessive Inheritance pattern
Pediatric Blood & Cancer, 2013Co-Authors: Morad Khayat, Stavit A Shalev, Carina Levin, Lucia Zalman, Hannah Tamary, Tanya Krasnov, Ihsan Salama, Ariel KorenAbstract:We describe the clinical and laboratory features of a family of Arab ancestry and consanguinity. Five affected individuals were diagnosed in two sibships. All affected members have small platelets, severe to moderate thrombocytopenia of neonatal onset, increased bleeding tendency and bleeding complications such as: life-threatening massive hemoperitoneum due to corpus luteum rupture during ovulation and severe mucosal bleeding. The familial involvement and early onset of the disease support the presence of a congenital genetic disorder with an Autosomal Recessive Inheritance pattern. This does not fit the clinical spectrum of any of the currently known thrombocytopenia disorders. Pediatr Blood Cancer 2013;60:E128–E130. © 2013 Wiley Periodicals, Inc.
Ravi Savarirayan - One of the best experts on this subject based on the ideXlab platform.
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two sisters with image syndrome cytomegalic adrenal histopathology support for Autosomal Recessive Inheritance and literature review
American Journal of Medical Genetics Part A, 2006Co-Authors: Tiong Yang Tan, Larry J Jameson, Peter Ellis Campbell, Paul G Ekert, Margaret Zacharin, Ravi SavarirayanAbstract:Adrenal hypoplasia congenita (AHC) is a rare condition and causes primary adrenal insufficiency. X-linked (OMIM 300200) and Autosomal Recessive (OMIM 240200) forms are recognized. Recently, an association between Intrauterine growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital abnormalities (IMAGe syndrome; OMIM 300290) has been described. We present the clinical features of two sisters with intrauterine growth restriction, AHC, and dysmorphic features. Interesting histopathologic findings of one sister are also presented. We suggest that IMAGe syndrome is the most plausible diagnosis and that Autosomal Recessive Inheritance is likely. We analyzed genes that were postulated candidates for IMAGe syndrome (SF1, DAX-1, and STAR), and no mutations were found. Other cases of IMAGe syndrome are reviewed.
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Two sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for Autosomal Recessive Inheritance and literature review
American Journal of Medical Genetics Part A, 2006Co-Authors: Tiong Yang Tan, Peter Ellis Campbell, Paul G Ekert, Margaret Zacharin, J. Larry Jameson, Ravi SavarirayanAbstract:Adrenal hypoplasia congenita (AHC) is a rare condition and causes primary adrenal insufficiency. X-linked (OMIM 300200) and Autosomal Recessive (OMIM 240200) forms are recognized. Recently, an association between Intrauterine growth restriction. Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital abnormalities (IMAGe syndrome; OMIM 300290) has been described. We present the clinical features of two sisters with intrauterine growth restriction, AHC, and dysmorphic features. Interesting histopathologic findings of one sister are also presented. We suggest that IMAGe syndrome is the most plausible diagnosis and that Autosomal Recessive Inheritance is likely. We analyzed genes that were postulated candidates for IMAGe syndrome (SF1, DAX-1, and STAR), and no mutations were found. Other cases of IMAGe syndrome are reviewed. © 2006 Wiley-Liss, Inc.link_to_subscribed_fulltex
Akihiro Hashiguchi - One of the best experts on this subject based on the ideXlab platform.
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Charcot–Marie–Tooth disease type 2A with an Autosomal-Recessive Inheritance: the first report of an adult-onset disease
Journal of Human Genetics, 2018Co-Authors: Ryota Hikiami, Hirofumi Yamashita, Natsuko Koita, Naoto Jingami, Nobukatsu Sawamoto, Kaoru Furukawa, Hiromichi Kawai, Tomoya Terashima, Akihiro Hashiguchi, Hiroshi TakashimaAbstract:Axonal Charcot–Marie–Tooth disease (CMT) is most frequently caused by mutations in the MFN2 gene (CMT2A) that can lead to various clinical phenotypes. The age at disease onset varies, but most cases occur before adolescence. We report two Japanese sisters who presented with middle-age-onset peripheral neuropathy with distinct clinical features. In the affected sisters, a homozygous missense mutation, c.1894C>T, p.R632W, corresponding to the transmembrane domain of MFN2 was identified; this mutation was heterozygous in another non-affected sibling, demonstrating co-segregation of the genotype and phenotype. The patients developed adult-onset slowly progressive muscle weakness that was predominant in the calf muscles and sensory disturbance. Magnetic resonance imaging revealed diffuse atrophy of the spinal cord, especially in the thoracic segment, and mild atrophy of the parietal lobe and the cerebellum in both patients. Electron microscopy of the sural nerve revealed clusters of round and swollen mitochondria. This is the first case report of adult-onset CMT2A with an Autosomal-Recessive Inheritance pattern. The phenotype caused by the MFN2 mutation in these cases is very mild, considering that the mutation causes middle-aged-onset Charcot–Marie–Tooth even in the homozygous state. The mechanism of MFN2 mutation-induced toxicity is an interesting theme that awaits further investigations.
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charcot marie tooth disease type 2a with an Autosomal Recessive Inheritance the first report of an adult onset disease
Journal of Human Genetics, 2018Co-Authors: Ryota Hikiami, Hirofumi Yamashita, Natsuko Koita, Naoto Jingami, Nobukatsu Sawamoto, Kaoru Furukawa, Hiromichi Kawai, Tomoya Terashima, Nobuyuki Oka, Akihiro HashiguchiAbstract:Axonal Charcot-Marie-Tooth disease (CMT) is most frequently caused by mutations in the MFN2 gene (CMT2A) that can lead to various clinical phenotypes. The age at disease onset varies, but most cases occur before adolescence. We report two Japanese sisters who presented with middle-age-onset peripheral neuropathy with distinct clinical features. In the affected sisters, a homozygous missense mutation, c.1894C>T, p.R632W, corresponding to the transmembrane domain of MFN2 was identified; this mutation was heterozygous in another non-affected sibling, demonstrating co-segregation of the genotype and phenotype. The patients developed adult-onset slowly progressive muscle weakness that was predominant in the calf muscles and sensory disturbance. Magnetic resonance imaging revealed diffuse atrophy of the spinal cord, especially in the thoracic segment, and mild atrophy of the parietal lobe and the cerebellum in both patients. Electron microscopy of the sural nerve revealed clusters of round and swollen mitochondria. This is the first case report of adult-onset CMT2A with an Autosomal-Recessive Inheritance pattern. The phenotype caused by the MFN2 mutation in these cases is very mild, considering that the mutation causes middle-aged-onset Charcot-Marie-Tooth even in the homozygous state. The mechanism of MFN2 mutation-induced toxicity is an interesting theme that awaits further investigations.
L F Telles - One of the best experts on this subject based on the ideXlab platform.
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Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of Autosomal Recessive Inheritance.
Journal of medical genetics, 1991Co-Authors: J C De Almeida, J C Llerena Júnior, J G Barbosa Neto, Ramos Pontes, S Middleton, L F TellesAbstract:Two sibs with a phenotype characterised by short stature, brachydactyly, and ocular anomalies (Peters' anomaly) are reported (Peters'-plus syndrome). The consanguinity is in agreement with the proposed Autosomal Recessive Inheritance.
Ryota Hikiami - One of the best experts on this subject based on the ideXlab platform.
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Charcot–Marie–Tooth disease type 2A with an Autosomal-Recessive Inheritance: the first report of an adult-onset disease
Journal of Human Genetics, 2018Co-Authors: Ryota Hikiami, Hirofumi Yamashita, Natsuko Koita, Naoto Jingami, Nobukatsu Sawamoto, Kaoru Furukawa, Hiromichi Kawai, Tomoya Terashima, Akihiro Hashiguchi, Hiroshi TakashimaAbstract:Axonal Charcot–Marie–Tooth disease (CMT) is most frequently caused by mutations in the MFN2 gene (CMT2A) that can lead to various clinical phenotypes. The age at disease onset varies, but most cases occur before adolescence. We report two Japanese sisters who presented with middle-age-onset peripheral neuropathy with distinct clinical features. In the affected sisters, a homozygous missense mutation, c.1894C>T, p.R632W, corresponding to the transmembrane domain of MFN2 was identified; this mutation was heterozygous in another non-affected sibling, demonstrating co-segregation of the genotype and phenotype. The patients developed adult-onset slowly progressive muscle weakness that was predominant in the calf muscles and sensory disturbance. Magnetic resonance imaging revealed diffuse atrophy of the spinal cord, especially in the thoracic segment, and mild atrophy of the parietal lobe and the cerebellum in both patients. Electron microscopy of the sural nerve revealed clusters of round and swollen mitochondria. This is the first case report of adult-onset CMT2A with an Autosomal-Recessive Inheritance pattern. The phenotype caused by the MFN2 mutation in these cases is very mild, considering that the mutation causes middle-aged-onset Charcot–Marie–Tooth even in the homozygous state. The mechanism of MFN2 mutation-induced toxicity is an interesting theme that awaits further investigations.
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charcot marie tooth disease type 2a with an Autosomal Recessive Inheritance the first report of an adult onset disease
Journal of Human Genetics, 2018Co-Authors: Ryota Hikiami, Hirofumi Yamashita, Natsuko Koita, Naoto Jingami, Nobukatsu Sawamoto, Kaoru Furukawa, Hiromichi Kawai, Tomoya Terashima, Nobuyuki Oka, Akihiro HashiguchiAbstract:Axonal Charcot-Marie-Tooth disease (CMT) is most frequently caused by mutations in the MFN2 gene (CMT2A) that can lead to various clinical phenotypes. The age at disease onset varies, but most cases occur before adolescence. We report two Japanese sisters who presented with middle-age-onset peripheral neuropathy with distinct clinical features. In the affected sisters, a homozygous missense mutation, c.1894C>T, p.R632W, corresponding to the transmembrane domain of MFN2 was identified; this mutation was heterozygous in another non-affected sibling, demonstrating co-segregation of the genotype and phenotype. The patients developed adult-onset slowly progressive muscle weakness that was predominant in the calf muscles and sensory disturbance. Magnetic resonance imaging revealed diffuse atrophy of the spinal cord, especially in the thoracic segment, and mild atrophy of the parietal lobe and the cerebellum in both patients. Electron microscopy of the sural nerve revealed clusters of round and swollen mitochondria. This is the first case report of adult-onset CMT2A with an Autosomal-Recessive Inheritance pattern. The phenotype caused by the MFN2 mutation in these cases is very mild, considering that the mutation causes middle-aged-onset Charcot-Marie-Tooth even in the homozygous state. The mechanism of MFN2 mutation-induced toxicity is an interesting theme that awaits further investigations.