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.
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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