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Genotype-phenotype relationships in Freeman-Sheldon syndrome.
Beck, Anita E; McMillin, Margaret J; Gildersleeve, Heidi I S; Shively, Kathryn M B; Tang, Andy; Bamshad, Michael J.
Afiliación
  • Beck AE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington; Seattle Children's Hospital, Seattle, Washington.
Am J Med Genet A ; 164A(11): 2808-13, 2014 Nov.
Article en En | MEDLINE | ID: mdl-25256237
Distal arthrogryposis (DA) syndromes are a group of disorders characterized by multiple congenital contractures. DA type 2A (DA2A or Freeman-Sheldon syndrome), caused by mutations in MYH3, is typically considered the most severe of the DA syndromes. However, there is wide phenotypic variability among individuals with DA2A. We characterized genotype-phenotype relationships in 46 families with DA2A. MYH3 mutations were found in 43/46 (93%) kindreds, with three mutations (p.T178I, p.R672C, and p.R672H) explaining 39/43 (91%) of cases. Phenotypic severity varied significantly by genotype (P=0.0055). Individuals with p.T178I were the most severely affected with both facial contractures and congenital scoliosis. Classification of individuals with DA2A into phenotypic groups of varying severity should facilitate providing families with more accurate information about natural history and suggests that individuals might benefit from personalized medical management motivated by MYH3 genotype.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Disostosis Craneofacial / Estudios de Asociación Genética / Genotipo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Disostosis Craneofacial / Estudios de Asociación Genética / Genotipo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article Pais de publicación: Estados Unidos