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A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene
Article em En | WPRIM | ID: wpr-137163
Biblioteca responsável: WPRO
ABSTRACT
Campomelic dysplasia (CMD) is a rare, often lethal, genetic disorder characterized by multiple congenital anomalies and abnormal development of the reproductive organs in males. Mutations in the SOX9 gene are known to cause CMD. We present a Korean CMD girl with a normal 46,XX karyotype and a female reproductive organ phenotype. She was born at 2.35 kg at 38 weeks of gestation and showed characteristic phenotypes, including cleft palate, micrognathia, hypertelorism, flat nasal bridge, congenital bowing of limbs, hypoplastic scapulae, deformed pelvis, and 11 pairs of ribs. She also had an atrioseptal defect of the heart and marked laryngotracheomalacia requiring tracheostomy and tracheopexy. SOX9 mutation analysis revealed the presence of a novel nonsense mutation, p.Gln369*, and the patient was genetically confirmed to have CMD. Although she showed marked failure to thrive and neurodevelopmental delay, she is now 40 months of age and is the only surviving patient with CMD in Korea.
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Texto completo: 1 Base de dados: WPRIM Assunto principal: Pelve / Fenótipo / Costelas / Escápula / Traqueostomia / Fissura Palatina / Códon sem Sentido / Extremidades / Insuficiência de Crescimento / Displasia Campomélica Limite: Female / Humans / Male / Pregnancy País/Região como assunto: Asia Idioma: En Revista: Journal of Genetic Medicine Ano de publicação: 2012 Tipo de documento: Article
Texto completo: 1 Base de dados: WPRIM Assunto principal: Pelve / Fenótipo / Costelas / Escápula / Traqueostomia / Fissura Palatina / Códon sem Sentido / Extremidades / Insuficiência de Crescimento / Displasia Campomélica Limite: Female / Humans / Male / Pregnancy País/Região como assunto: Asia Idioma: En Revista: Journal of Genetic Medicine Ano de publicação: 2012 Tipo de documento: Article