SOX10 mutation with peripheral amyelination and developmental disturbance of axons.

Abstract

In this study we describe a case of a term infant with the neurological variant of Waardenburg syndrome type 4 (i.e., PCWH = peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease, as defined in OMIM #609136) due to a novel heterozygous base exchange (c.671C>G) in exon 4 of SOX10. Magnetic resonance imaging suggested central myelin deficiency with cerebral and cerebellar hypoplasia. Hirschsprung disease was confirmed by rectal biopsy. Sural nerve biopsy revealed hypoplasia due to amyelination (with the exception of a single, small myelinated fiber) and severe reduction in the number of axons.

• Authors: Kathleen Parthey, Malte Kornhuber, Christian Kunze, Dorothea Wand, Kay W Nolte, Stefan Nikolin, Joachim Weis, J Michael Schröder
• Journal: Muscle & nerve (Muscle Nerve) Vol. 45 Issue 2 Pg. 284-90 (Feb 2012) ISSN: 1097-4598 [Electronic] United States
• PMID: 22246888 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2011 Wiley Periodicals, Inc.

Chemical References

• SOX10 protein, human
• SOXE Transcription Factors

Topics

• Axons (pathology, ultrastructure)
• Demyelinating Diseases (complications, genetics, pathology)
• Humans
• Infant, Newborn
• Male
• Microscopy, Electron, Transmission
• Muscle, Skeletal (pathology, ultrastructure)
• Mutation (genetics)
• Peripheral Nervous System Diseases (complications, genetics, pathology)
• SOXE Transcription Factors (genetics)
• Sural Nerve (pathology, ultrastructure)