KMID : 1189120170140020086
|
|
´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö 2017 Volume.14 No. 2 p.86 ~ p.89
|
|
The first Korean case of Waardenburg-Shah syndrome with novel endothelin receptor type B mutations
|
|
Lee Eun-Sun
Ko Jung-Min Moon Jin-Su
|
|
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.
|
|
KEYWORD
|
|
Waardenburg syndrome, Hirschsprung disease, Endothelin B receptor
|
|
FullTexts / Linksout information
|
|
|
|
Listed journal information
|
|
|
|