Congenital Hypomyelinating Neuropathy, Central Dysmyelination, And Waardenburg-hirschsprung Disease: Phenotypes Linked By Sox10 Mutation

Title

Congenital Hypomyelinating Neuropathy, Central Dysmyelination, And Waardenburg-hirschsprung Disease: Phenotypes Linked By Sox10 Mutation

Creator

Inoue K; Shilo K; Boerkoel C F; Crowe C; Sawady J; Lupski J R; Agamanolis D P

Publisher

Annals of Neurology

Date

2002
2002-12

Description

A unique phenotype of Waardenburg-Hirschsprung disease (WS4) accompanied by peripheral neuropathy and central dysmyelination has been recognized recently in association with SOX10 mutations. We report an infant boy with lethal congenital hypomyelinating neuropathy and WS4 who had a heterozygous SOX10 mutation (Q250X). Histopathological studies showed an absence of peripheral nerve myelin despite normal numbers of Schwann cells and profound dysmyelination in the central nervous system. These observations suggest that some SOX10 mutations such as Q250X may allow Schwann cells and oligodendrocytes to proliferate but interfere with further differentiation to form myelin. In contrast with the SOX10 loss-of-function mutations causing only WS4, mutations associated with both peripheral and central dysmyelination may affect pathology through a dominant-negative mechanism.

Subject

expression; gene; Neurosciences & Neurology; transcription factor sox10

Identifier

Format

Journal Article or Conference Abstract Publication

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Rights

Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).

Pages

836-842

Issue

6

Volume

52

Citation

Inoue K; Shilo K; Boerkoel C F; Crowe C; Sawady J; Lupski J R; Agamanolis D P, “Congenital Hypomyelinating Neuropathy, Central Dysmyelination, And Waardenburg-hirschsprung Disease: Phenotypes Linked By Sox10 Mutation,” NEOMED Bibliography Database, accessed August 5, 2021, https://neomed.omeka.net/items/show/10291.

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