Observation of Cleft Palate in an Individual with SOX11 Mutation: Indication of a Role for SOX11 in Human Palatogenesis. (March 2018)

• Record Type: Journal Article
• Authors: Khan, Umair; Study, DDD; Baker, Eleanor; Clayton-Smith, Jill
• Is Part Of: Cleft palate-craniofacial journal. Volume 55:Number 3(2018)
• Page Start: 456
• Page End: 461
• Publication Date: 2018-03
• Subjects: Coffin-Siris syndrome -- CSS -- SOX11 -- cleft palate; Cleft palate -- Periodicals; Skull -- Abnormalities -- Periodicals; Cranial manipulation -- Periodicals; Skull -- Abnormalities -- Surgery -- Periodicals; Face -- Abnormalities -- Surgery -- Periodicals; Fente palatine -- Périodiques; Crâne -- Malformations -- Périodiques; Manipulation crânienne -- Périodiques; Crâne -- Malformations -- Chirurgie -- Périodiques; Face -- Malformations -- Chirurgie -- Périodiques; Cleft palate; Cranial manipulation; Face -- Abnormalities -- Surgery; Skull -- Abnormalities; Skull -- Abnormalities -- Surgery; Cleft Lip; Cleft Palate; Facial Bones -- abnormalities; Skull -- abnormalities; Periodicals; Periodicals; Periodicals; 617.522
• DOI: 10.1177/1055665617739312
• Languages: English
• ISSNs: 1055-6656

Abstract

Objective: Point mutations and deletions within the SOX11 gene have recently been described in individuals with a rare variant of Coffin-Siris syndrome, OMIM 615866, an intellectual disability syndrome with associated features of nail hypoplasia, microcephaly, and characteristic facial features including a wide mouth and prominent lips. Participant: We describe a further patient with a mutation in SOX11 and phenotype resembling mild Coffin-Siris syndrome. Results: This boy had a cleft palate, a feature not previously seen in other patients with SOX11 mutations. Conclusion: We discuss This adds to the current evidence that SOX11 is a gene involved in palatogenesis.