title: 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.affiliation: Clinic and Policlinic for Child and Adolescent Medicine, Neonatal Intensive Care Unit, University Hospital, Halle, Saale, Germany.
authors.forename: Kathleen
authors.initials: K
authors.lastname: Parthey
authors.forename: Malte
authors.initials: M
authors.lastname: Kornhuber
authors.forename: Christian
authors.initials: C
authors.lastname: Kunze
authors.forename: Dorothea
authors.initials: D
authors.lastname: Wand
authors.forename: Kay W
authors.initials: KW
authors.lastname: Nolte
authors.forename: Stefan
authors.initials: S
authors.lastname: Nikolin
authors.forename: Joachim
authors.initials: J
authors.lastname: Weis
authors.forename: J Michael
authors.initials: JM
authors.lastname: Schröder
mesh_terms: D001369:Axons / Q000473:pathology* / Q000648:ultrastructure; D003711:Demyelinating Diseases / Q000150:complications / Q000235:genetics / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D046529:Microscopy, Electron, Transmission; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009154:Mutation / Q000235:genetics*; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000235:genetics / Q000473:pathology; D055757:SOXE Transcription Factors / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure
chemical_list: C527923:SOX10 protein, human; D055757:SOXE Transcription Factors