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Alan Fryer - One of the best experts on this subject based on the ideXlab platform.
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Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
European Journal of Human Genetics, 2012Co-Authors: Sonja A De Munnik, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al-aama, Michael B. Bober, Yolande Van Bever, Jill Clayton-smith, Alaa Y Edrees, Murray Feingold, Alan FryerAbstract:Meier–Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/Hypoplasia, and short stature. Recently, mutations in five genes from the pre-replication complex ( ORC1 , ORC4 , ORC6 , CDT1 , and CDC6 ), crucial in cell-cycle progression and growth, were identified in individuals with MGS. Here, we report on genotype–phenotype studies in 45 individuals with MGS (27 females, 18 males; age 3 months–47 years). Thirty-five individuals had biallelic mutations in one of the five causative pre-replication genes. No homozygous or compound heterozygous null mutations were detected. In 10 individuals, no definitive molecular diagnosis was made. The triad of microtia, absent/hypoplastic patellae, and short stature was observed in 82% of individuals with MGS. Additional frequent clinical features were mammary Hypoplasia (100%) and abnormal genitalia (42%; predominantly cryptorchidism and hypoplastic labia minora/majora). One individual with ORC1 mutations only had short stature, emphasizing the highly variable clinical spectrum of MGS. Individuals with ORC1 mutations had significantly shorter stature and smaller head circumferences than individuals from other gene categories. Furthermore, compared with homozygous missense mutations, compound heterozygous mutations appeared to have a more severe effect on phenotype, causing more severe growth retardation in ORC4 and more frequently pulmonary emphysema in CDT1 . A lethal phenotype was seen in four individuals with compound heterozygous ORC1 and CDT1 mutations. No other clear genotype–phenotype association was observed. Growth hormone and estrogen treatment may be of some benefit, respectively, to growth retardation and Breast Hypoplasia, though further studies in this patient group are needed.
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meier gorlin syndrome genotype phenotype studies 35 individuals with pre replication complex gene mutations and 10 without molecular diagnosis
European Journal of Human Genetics, 2012Co-Authors: Sonja A De Munnik, Louise S. Bicknell, Salim Aftimos, Michael B. Bober, Alaa Y Edrees, Murray Feingold, Jumana Y Alaama, Yolande Van Bever, Jill Claytonsmith, Alan FryerAbstract:Meier-Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/Hypoplasia, and short stature. Recently, mutations in five genes from the pre-replication complex (ORC1, ORC4, ORC6, CDT1, and CDC6), crucial in cell-cycle progression and growth, were identified in individuals with MGS. Here, we report on genotype-phenotype studies in 45 individuals with MGS (27 females, 18 males; age 3 months-47 years). Thirty-five individuals had biallelic mutations in one of the five causative pre-replication genes. No homozygous or compound heterozygous null mutations were detected. In 10 individuals, no definitive molecular diagnosis was made. The triad of microtia, absent/hypoplastic patellae, and short stature was observed in 82% of individuals with MGS. Additional frequent clinical features were mammary Hypoplasia (100%) and abnormal genitalia (42%; predominantly cryptorchidism and hypoplastic labia minora/majora). One individual with ORC1 mutations only had short stature, emphasizing the highly variable clinical spectrum of MGS. Individuals with ORC1 mutations had significantly shorter stature and smaller head circumferences than individuals from other gene categories. Furthermore, compared with homozygous missense mutations, compound heterozygous mutations appeared to have a more severe effect on phenotype, causing more severe growth retardation in ORC4 and more frequently pulmonary emphysema in CDT1. A lethal phenotype was seen in four individuals with compound heterozygous ORC1 and CDT1 mutations. No other clear genotype-phenotype association was observed. Growth hormone and estrogen treatment may be of some benefit, respectively, to growth retardation and Breast Hypoplasia, though further studies in this patient group are needed.
Sonja A De Munnik - One of the best experts on this subject based on the ideXlab platform.
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Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
European Journal of Human Genetics, 2012Co-Authors: Sonja A De Munnik, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al-aama, Michael B. Bober, Yolande Van Bever, Jill Clayton-smith, Alaa Y Edrees, Murray Feingold, Alan FryerAbstract:Meier–Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/Hypoplasia, and short stature. Recently, mutations in five genes from the pre-replication complex ( ORC1 , ORC4 , ORC6 , CDT1 , and CDC6 ), crucial in cell-cycle progression and growth, were identified in individuals with MGS. Here, we report on genotype–phenotype studies in 45 individuals with MGS (27 females, 18 males; age 3 months–47 years). Thirty-five individuals had biallelic mutations in one of the five causative pre-replication genes. No homozygous or compound heterozygous null mutations were detected. In 10 individuals, no definitive molecular diagnosis was made. The triad of microtia, absent/hypoplastic patellae, and short stature was observed in 82% of individuals with MGS. Additional frequent clinical features were mammary Hypoplasia (100%) and abnormal genitalia (42%; predominantly cryptorchidism and hypoplastic labia minora/majora). One individual with ORC1 mutations only had short stature, emphasizing the highly variable clinical spectrum of MGS. Individuals with ORC1 mutations had significantly shorter stature and smaller head circumferences than individuals from other gene categories. Furthermore, compared with homozygous missense mutations, compound heterozygous mutations appeared to have a more severe effect on phenotype, causing more severe growth retardation in ORC4 and more frequently pulmonary emphysema in CDT1 . A lethal phenotype was seen in four individuals with compound heterozygous ORC1 and CDT1 mutations. No other clear genotype–phenotype association was observed. Growth hormone and estrogen treatment may be of some benefit, respectively, to growth retardation and Breast Hypoplasia, though further studies in this patient group are needed.
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meier gorlin syndrome genotype phenotype studies 35 individuals with pre replication complex gene mutations and 10 without molecular diagnosis
European Journal of Human Genetics, 2012Co-Authors: Sonja A De Munnik, Louise S. Bicknell, Salim Aftimos, Michael B. Bober, Alaa Y Edrees, Murray Feingold, Jumana Y Alaama, Yolande Van Bever, Jill Claytonsmith, Alan FryerAbstract:Meier-Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/Hypoplasia, and short stature. Recently, mutations in five genes from the pre-replication complex (ORC1, ORC4, ORC6, CDT1, and CDC6), crucial in cell-cycle progression and growth, were identified in individuals with MGS. Here, we report on genotype-phenotype studies in 45 individuals with MGS (27 females, 18 males; age 3 months-47 years). Thirty-five individuals had biallelic mutations in one of the five causative pre-replication genes. No homozygous or compound heterozygous null mutations were detected. In 10 individuals, no definitive molecular diagnosis was made. The triad of microtia, absent/hypoplastic patellae, and short stature was observed in 82% of individuals with MGS. Additional frequent clinical features were mammary Hypoplasia (100%) and abnormal genitalia (42%; predominantly cryptorchidism and hypoplastic labia minora/majora). One individual with ORC1 mutations only had short stature, emphasizing the highly variable clinical spectrum of MGS. Individuals with ORC1 mutations had significantly shorter stature and smaller head circumferences than individuals from other gene categories. Furthermore, compared with homozygous missense mutations, compound heterozygous mutations appeared to have a more severe effect on phenotype, causing more severe growth retardation in ORC4 and more frequently pulmonary emphysema in CDT1. A lethal phenotype was seen in four individuals with compound heterozygous ORC1 and CDT1 mutations. No other clear genotype-phenotype association was observed. Growth hormone and estrogen treatment may be of some benefit, respectively, to growth retardation and Breast Hypoplasia, though further studies in this patient group are needed.
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Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
'Springer Science and Business Media LLC', 2012Co-Authors: Sonja A De Munnik, Bicknell L.s., Aftimos S., Al-aama J.y., Bever Y. Van, Bober M.b., Clayton-smith J., Edrees A.y., Feingold M., Fryer A.Abstract:Item does not contain fulltextMeier-Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/Hypoplasia, and short stature. Recently, mutations in five genes from the pre-replication complex (ORC1, ORC4, ORC6, CDT1, and CDC6), crucial in cell-cycle progression and growth, were identified in individuals with MGS. Here, we report on genotype-phenotype studies in 45 individuals with MGS (27 females, 18 males; age 3 months-47 years). Thirty-five individuals had biallelic mutations in one of the five causative pre-replication genes. No homozygous or compound heterozygous null mutations were detected. In 10 individuals, no definitive molecular diagnosis was made. The triad of microtia, absent/hypoplastic patellae, and short stature was observed in 82% of individuals with MGS. Additional frequent clinical features were mammary Hypoplasia (100%) and abnormal genitalia (42%; predominantly cryptorchidism and hypoplastic labia minora/majora). One individual with ORC1 mutations only had short stature, emphasizing the highly variable clinical spectrum of MGS. Individuals with ORC1 mutations had significantly shorter stature and smaller head circumferences than individuals from other gene categories. Furthermore, compared with homozygous missense mutations, compound heterozygous mutations appeared to have a more severe effect on phenotype, causing more severe growth retardation in ORC4 and more frequently pulmonary emphysema in CDT1. A lethal phenotype was seen in four individuals with compound heterozygous ORC1 and CDT1 mutations. No other clear genotype-phenotype association was observed. Growth hormone and estrogen treatment may be of some benefit, respectively, to growth retardation and Breast Hypoplasia, though further studies in this patient group are needed.1 juni 201
Rudolf Happle - One of the best experts on this subject based on the ideXlab platform.
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Becker Nevus Syndrome
Actas Dermo-Sifiliográficas, 2007Co-Authors: A. Alfaro, A. Hernández-gil, Antonio Torrelo, Antonio Zambrano, Rudolf HappleAbstract:Becker nevus is a hyperpigmented hamartoma with an irregular outline and often hairy. It is normally found on the shoulders and chest, although it can appear in other areas. Becker nevus is sometimes associated with other muscular, skeletal, or cutaneous abnormalities such as ipsilateral Breast Hypoplasia or scoliosis. This characteristic phenotype of Becker nevus associated with unilateral Breast Hypoplasia or other abnormalities is referred to as Becker nevus syndrome. Although the lesions usually become apparent during adolescence, they are present from birth and represent part of the spectrum of so-called epidermal nevus syndromes. We present 4 cases of Becker nevus syndrome in which Becker nevus was associated with ipsilateral Breast Hypoplasia and, less consistently, other abnormalities.
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becker s nevus syndrome revisited
Journal of The American Academy of Dermatology, 2004Co-Authors: Retno Danarti, Aicha Salhi, Arne König, M. Bittar, Rudolf HappleAbstract:mented and hypertrichotic skin lesion with unilateral arrangement. This disorder that is today called Becker’s nevus is characterized by the presence of a light or dark brown macule with a sharply outlined but irregular border that resolves into small spots reminiscent of an archipelago. In male patients, the lesion shows increased hairiness after puberty. It tends to be arranged in a checkerboard pattern. 2 Becker’s nevus is fairly common 3 but often overlooked or misdiagnosed. The disorder may become obvious in late childhood or adolescence but for obvious reasons we think that it is always congenital. An association of Becker’s nevus with other developmental anomalies has sometimes been reported. Happle and Koopman 4 reviewed 23 cases and proposed the new term ‘‘Becker’s nevus syndrome’’ for a simultaneous occurrence of Becker’s nevus and unilateral Breast Hypoplasia or other cutaneous, muscular, or skeletal defects. All of these anomalies tend to show a regional correspondence to the nevus and are mostly ipsilateral. To assess the clinical spectrum of this syndrome in more detail, we present an overview of 55 cases as reported in the literature 3,5-40 and in some personal communications.
Van Bever Y - One of the best experts on this subject based on the ideXlab platform.
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Breast Hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype?
Journal of medical genetics, 2000Co-Authors: Van Bever YAbstract:Editor—The ear, patella, short stature syndrome (EPS or Meier-Gorlin syndrome) is a rare disorder characterised by microtia, absent or hypoplastic patellae, and proportionate pre- and postnatal growth retardation. In 1994, published reports of the disorder were reviewed by Boles et al .1 To date, over 17 patients have been described.1-5 Inheritance is autosomal recessive as evidenced by an almost equal number of male and female patients, as well as affected sibs, occurrence of consanguineous matings, and the absence of clinical abnormalities in the parents. Here, we describe two unrelated patients with the EPS syndrome and Breast Hypoplasia. This is a hitherto unreported finding that may be a part of the syndrome in adult females. Furthermore, the disproportionate short stature which was present in our patients may be a skeletal manifestation of the EPS syndrome. Patient 1 was the first child of non-consanguineous parents. Clitoral hypertrophy and hypoplastic labia minora were noted after birth. She was referred at the age of 14 years because of dysmorphic features and delayed Breast …
Michael B. Bober - One of the best experts on this subject based on the ideXlab platform.
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Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
European Journal of Human Genetics, 2012Co-Authors: Sonja A De Munnik, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al-aama, Michael B. Bober, Yolande Van Bever, Jill Clayton-smith, Alaa Y Edrees, Murray Feingold, Alan FryerAbstract:Meier–Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/Hypoplasia, and short stature. Recently, mutations in five genes from the pre-replication complex ( ORC1 , ORC4 , ORC6 , CDT1 , and CDC6 ), crucial in cell-cycle progression and growth, were identified in individuals with MGS. Here, we report on genotype–phenotype studies in 45 individuals with MGS (27 females, 18 males; age 3 months–47 years). Thirty-five individuals had biallelic mutations in one of the five causative pre-replication genes. No homozygous or compound heterozygous null mutations were detected. In 10 individuals, no definitive molecular diagnosis was made. The triad of microtia, absent/hypoplastic patellae, and short stature was observed in 82% of individuals with MGS. Additional frequent clinical features were mammary Hypoplasia (100%) and abnormal genitalia (42%; predominantly cryptorchidism and hypoplastic labia minora/majora). One individual with ORC1 mutations only had short stature, emphasizing the highly variable clinical spectrum of MGS. Individuals with ORC1 mutations had significantly shorter stature and smaller head circumferences than individuals from other gene categories. Furthermore, compared with homozygous missense mutations, compound heterozygous mutations appeared to have a more severe effect on phenotype, causing more severe growth retardation in ORC4 and more frequently pulmonary emphysema in CDT1 . A lethal phenotype was seen in four individuals with compound heterozygous ORC1 and CDT1 mutations. No other clear genotype–phenotype association was observed. Growth hormone and estrogen treatment may be of some benefit, respectively, to growth retardation and Breast Hypoplasia, though further studies in this patient group are needed.
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meier gorlin syndrome genotype phenotype studies 35 individuals with pre replication complex gene mutations and 10 without molecular diagnosis
European Journal of Human Genetics, 2012Co-Authors: Sonja A De Munnik, Louise S. Bicknell, Salim Aftimos, Michael B. Bober, Alaa Y Edrees, Murray Feingold, Jumana Y Alaama, Yolande Van Bever, Jill Claytonsmith, Alan FryerAbstract:Meier-Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/Hypoplasia, and short stature. Recently, mutations in five genes from the pre-replication complex (ORC1, ORC4, ORC6, CDT1, and CDC6), crucial in cell-cycle progression and growth, were identified in individuals with MGS. Here, we report on genotype-phenotype studies in 45 individuals with MGS (27 females, 18 males; age 3 months-47 years). Thirty-five individuals had biallelic mutations in one of the five causative pre-replication genes. No homozygous or compound heterozygous null mutations were detected. In 10 individuals, no definitive molecular diagnosis was made. The triad of microtia, absent/hypoplastic patellae, and short stature was observed in 82% of individuals with MGS. Additional frequent clinical features were mammary Hypoplasia (100%) and abnormal genitalia (42%; predominantly cryptorchidism and hypoplastic labia minora/majora). One individual with ORC1 mutations only had short stature, emphasizing the highly variable clinical spectrum of MGS. Individuals with ORC1 mutations had significantly shorter stature and smaller head circumferences than individuals from other gene categories. Furthermore, compared with homozygous missense mutations, compound heterozygous mutations appeared to have a more severe effect on phenotype, causing more severe growth retardation in ORC4 and more frequently pulmonary emphysema in CDT1. A lethal phenotype was seen in four individuals with compound heterozygous ORC1 and CDT1 mutations. No other clear genotype-phenotype association was observed. Growth hormone and estrogen treatment may be of some benefit, respectively, to growth retardation and Breast Hypoplasia, though further studies in this patient group are needed.