Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation.
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.
Pingault
V
V
Génétique Moléculaire et Physiopathologie, Inserm U468, and Laboratoire de Biochimie et Génétique, Assistance Publique Hôpitaux de Paris, Hôpital Henri Mondor, Créteil, France.
Guiochon-Mantel
A
A
Bondurand
N
N
Faure
C
C
Lacroix
C
C
Lyonnet
S
S
Goossens
M
M
Landrieu
P
P
D000595:Amino Acid Sequence / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006609:High Mobility Group Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007418:Intestinal Pseudo-Obstruction / Q000235:genetics* / Q000503:physiopathology; D007621:Karyotyping; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009186:Myelin Sheath / Q000648:ultrastructure*; D009431:Neural Conduction / Q000235:genetics / Q000502:physiology; D009432:Neural Crest / Q000503:physiopathology*; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010641:Phenotype; D055757:SOXE Transcription Factors; D013577:Syndrome; D014157:Transcription Factors
D004268:DNA-Binding Proteins; D006609:High Mobility Group Proteins; C527923:SOX10 protein, human; D055757:SOXE Transcription Factors; D014157:Transcription Factors