Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination

Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination

Deafness, dystonia, and central hypomyelination (DDCH) syndrome (OMIM #300475) is a rare X-linked genetic disorder characterized by developmental delays, deafness, central hypomyelination, and dystonia. We report the first Korean familial case involving twin boy and girl carrying a novel pathogenic...

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Main Authors: Yoong-A Suh, Jisun Hwang, Go Hun Seo, Rin Khang, Jang Hoon Lee, Moon Sung Park, Young Bae Sohn
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Pediatrics
Subjects:
DDCH syndrome
BCAP31
whole genome sequencing
x-linked intellectual disability
sensorineural hearing loss
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1488095/full
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