Peripheral neuropathy with hypomyelination, chronic intestinal pseudo‐obstruction and deafness: A developmental “neural crest syndrome” related to a SOX10 …
V Pingault, A Guiochon‐Mantel… - Annals of Neurology …, 2000 - Wiley Online Library
Annals of Neurology: Official Journal of the American Neurological …, 2000•Wiley Online Library
We describe the case of a girl with an unusual congenital phenotype, combining peculiar
peripheral nerve lesions with hypomyelination, chronic intestinal pseudoobstruction, and
deafness. She was found to have a de novo heterozygous frameshift mutation in the gene
encoding the SOX10 transcription factor. The likely role of SOX10 in determining the fate of
Schwann cells during early embryogenesis may explain the peripheral nervous system
developmental disorder observed in this patient. Ann Neurol 2000; 48: 671–676
peripheral nerve lesions with hypomyelination, chronic intestinal pseudoobstruction, and
deafness. She was found to have a de novo heterozygous frameshift mutation in the gene
encoding the SOX10 transcription factor. The likely role of SOX10 in determining the fate of
Schwann cells during early embryogenesis may explain the peripheral nervous system
developmental disorder observed in this patient. Ann Neurol 2000; 48: 671–676
Abstract
We describe the case of a girl with an unusual congenital phenotype, combining peculiar peripheral nerve lesions with hypomyelination, chronic intestinal pseudoobstruction, and deafness. She was found to have a de novo heterozygous frameshift mutation in the gene encoding the SOX10 transcription factor. The likely role of SOX10 in determining the fate of Schwann cells during early embryogenesis may explain the peripheral nervous system developmental disorder observed in this patient. Ann Neurol 2000;48:671–676
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