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SOX10

Location: 22q13

Functions

- transcription factor (SOXs)
- human connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10 (11734543)

Pathology:

- germline mutations of SOX10 in Waardenburg-Shah type 4 disease (WS4) associating bilateral profound hearing loss, short segment Hirschsprung disease, and pigmentary abnormalities (white hair, blue irides with gray speckles, depigmented skin patches) (MIM.277580)

- Mutations in a developmental neural crest syndrome associating peripheral demyelinating neuropathy, central leukodystrophy, Waardenburg-Shah syndrome and chronic intestinal pseudo-obstruction and deafness (11026454)

- germline mutations in yemenite deaf-blind hypopigmentation syndrome (MIM.601706)

Truncating heterozygote SOX10 mutations have been identified in patients with WS4, Yemenite deaf-blind-hypopigmentation syndrome and WS2 but also in patients presenting in addition neurological impairment due to central and peripheral dysmyelination.

The latter combination is known as PCWH for Peripheral demyelination-Central dysmyelinating leucodystrophy-Waardenburg syndrome and Hirschsprung disease. Genotype–phenotype correlation relies on nonsense-mediated decay being effective (WS4) or not (PCWH).

The penetrance of the HSCR trait appears to be high, although sibs sharing a mutation and discordant for HSCR have been described in one family. Therefore, SOX10 is unlikely to be a major gene in isolated HSCR.

Animal models

The last known mouse model for WS4 in human is dominant megalon (Dom), homozygous Dom mutation being embryonic lethal. The Dom gene is Sox10, a member of the SRY (sex determining factor)-like, high mobility group (HMG) DNA binding proteins.

See also

- Hirschsprung disease genes

RET GDNF NRTN SOX10 EDNRB EDN3 ECE1 ZFHX1B PHOX2B TCF4

P.S.

MIM.602229