Article
A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation.
American journal of medical genetics. Part A - 1 May 2018
Akutsu Yuko, Shirai Kentaro, Takei Akira, Goto Yudai, Aoyama Tomohiro, Watanabe Akimitu, Imamura Masatoshi, Enokizono Takashi, Ohto Tatsuyuki, Hori Tetsuo, Suzuki Keiko, Hayashi Masaharu, Masumoto Kouji, Inoue Ken
Abstract excerpt
In this report, we present the case of a female infant with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH) associated with a novel frameshift mutation (c.842dupT) in exon 5, the last exon of SOX10. She had severe hypoganglionosis in the small intestine and entire colon, and suffered from frequent enterocolitis. The persistence of...
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