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SOX9 misregulation implicated in Pierre Robin sequence

In humans, SOX9 heterozygous mutations cause campomelic dysplasia, a syndrome with severe skeletal dysmorphology. The available evidence suggests that Sox 9 has a role in the regulation of cartilage growth and mice with the heterozygous Sox 9 mutation die perenataly with cleft palate a small lower jaw and poor formation of skeletal structure is derived from cartilage precursors. The same chromosomal breakpoint methodology identified a mutation in the region of the Sox 9 gene to be also implicated in cleft palate and a significant proportion of cleft palate patients also have mandibular hypoplasia, and this phenotype is characteristic of Pierre Robin sequence. SOX9 misregulation is therefore implicated in Pierre Robin sequence. This finding has broader implications for the pathogenesis of craniofacial deformity and also for chromatin biology and craniofacial development.

Reported by

UNIVERSITY OF EDINBURGH, MRC Human Genetics Unit
Western General Hospital
EH4 2XU Edinburgh
United Kingdom
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