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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence / genetics
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DNA-Binding Proteins / genetics*
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Deafness / genetics*
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Deafness / physiopathology
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Female
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High Mobility Group Proteins / genetics*
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Humans
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Infant
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Intestinal Pseudo-Obstruction / genetics*
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Intestinal Pseudo-Obstruction / physiopathology
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Karyotyping
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Molecular Sequence Data
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Mutation / genetics
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Myelin Sheath / ultrastructure*
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Neural Conduction / genetics
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Neural Conduction / physiology
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Neural Crest / physiopathology*
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Peripheral Nervous System Diseases / genetics*
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Peripheral Nervous System Diseases / pathology
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Peripheral Nervous System Diseases / physiopathology
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Phenotype
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SOXE Transcription Factors
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Syndrome
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Transcription Factors
Substances
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DNA-Binding Proteins
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High Mobility Group Proteins
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SOX10 protein, human
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SOXE Transcription Factors
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Transcription Factors