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, combin ing peculiar peripheral nerve lesions with hypomyelination, chronic intesti nal pseudoobstruction, and deafness. She was found to have a de novo hetero zygous frameshift mutation in the gene encoding the SOX10 transcription fac tor. The likely role of SOX10 in determining the fate of Schwann cells duri ng early embryogenesis may explain the peripheral nervous system developmen tal disorder observed in this patient.