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X-linked Opitz G/BBB Syndrome: Identification of a Novel Mutation and Prenatal Diagnosis in a Korean Family
Journal of Korean Medical Science ; : 790-793, 2006.
Artículo en Inglés | WPRIM | ID: wpr-14648
ABSTRACT
X-linked Opitz G/BBB syndrome (XLOS; MIM 300000) is a rare multiple congenital anomaly disorder that is characterized by facial anomalies, laryngeal/tracheal/esophageal defects and genitourinary abnormalities. XLOS is caused by mutations in the MID1 gene which encodes a microtubule-associated RING-Bbox-Coiled-coil (RBCC) protein. We recently found a four-year Korean male patient who was suspected of having XLOS. Mutation analysis of the MID1 gene in the patient and his mother demonstrated that the patient had a novel insertion mutation (c.1798_1799-insC), and his mother was a heterozygous carrier of the mutation. After identification of the causative mutation in this family, prenatal diagnosis of two consecutive fetuses were successfully undertaken. This is the first report on a genetically confirmed case of XLOS in Korea.
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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Diagnóstico Prenatal / Síndrome / Factores de Transcripción / Anomalías Múltiples / Proteínas Nucleares / Enfermedades Genéticas Ligadas al Cromosoma X / Proteínas de Microtúbulos / Mutación Tipo de estudio: Estudio diagnóstico / Estudio pronóstico Límite: Femenino / Humanos / Masculino / Recién Nacido Idioma: Inglés Revista: Journal of Korean Medical Science Año: 2006 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Diagnóstico Prenatal / Síndrome / Factores de Transcripción / Anomalías Múltiples / Proteínas Nucleares / Enfermedades Genéticas Ligadas al Cromosoma X / Proteínas de Microtúbulos / Mutación Tipo de estudio: Estudio diagnóstico / Estudio pronóstico Límite: Femenino / Humanos / Masculino / Recién Nacido Idioma: Inglés Revista: Journal of Korean Medical Science Año: 2006 Tipo del documento: Artículo