PCWH syndrome (Peripheral demyelinating neuropathy, Central dysmyelination, Waardenburg syndrome, and Hirschsprung disease) is a rare inherited disorder caused by SOX10 mutations. SOX10 regulates the development and maintenance of neural crest derivatives including Schwann cells, melanocytes, and enteric ganglion cells, and of oligodendrocytes, which are not derived from the neural crest. Accordingly, SOX10 gene mutations result in a wide spectrum of clinical phenotypes involving these cells. It is suggested that the complex neurological phenotypes in PCWH patients likely result from a combination of haploinsufficiency and additive dominant effect.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2H Syndromic genetic deafness
H02356 PCWH syndrome
Pingault V, Guiochon-Mantel A, Bondurand N, Faure C, Lacroix C, Lyonnet S, Goossens M, Landrieu P
Title
Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation.
