The first Korean case of Waardenburg-Shah syndrome with novel endothelin receptor type B mutations
Journal of Genetic Medicine
;
: 86-89, 2017.
Artículo
en Inglés
| WPRIM
| ID: wpr-179814
ABSTRACT
Waardenburg syndrome (WS) is a rare genetic disorder, including clinical features of pigmentary abnormalities of irides, skin, hair and sensorineural hearing loss and facial dysmorphism. Among the four types, WS type IV (Waardenburg-Shah syndrome) additionally represents Hirschsprung's disease. Mutations in the SOX10, END3, or EDNRB genes are known to cause WS type IV. Here, we report a 6 year-old girl who was diagnosed as WS type IV by typical clinical manifestations, including skin hypopigmentation, heterochromia of both irides, unilateral sensorineural hearing loss, mild developmental delay and Hirschsprung's disease. The diagnosis was confirmed by molecular genetic analysis of EDNRB. Two novel EDNRB mutations were identified, and each mutation was segregated from each of her parents. During the follow-up period, the patient underwent a surgery for spleen torsion and was medically managed due to recurrent enterocolitis. Also, she suffered from impaired immunity including Hirschsprung's associated enterocolitis.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Padres
/
Piel
/
Bazo
/
Síndrome de Waardenburg
/
Estudios de Seguimiento
/
Endotelinas
/
Receptores de Endotelina
/
Hipopigmentación
/
Receptor de Endotelina B
/
Diagnóstico
Tipo de estudio:
Estudio diagnóstico
/
Estudio observacional
/
Estudio pronóstico
Límite:
Femenino
/
Humanos
Idioma:
Inglés
Revista:
Journal of Genetic Medicine
Año:
2017
Tipo del documento:
Artículo
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