Observation of Cleft Palate in an Individual with SOX11 Mutation: Indication of a Role for SOX11 in Human Palatogenesis

Cleft Palate Craniofac J. 2018 Mar;55(3):456-461. doi: 10.1177/1055665617739312. Epub 2017 Dec 14.


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.

Keywords: CSS; Coffin-Siris syndrome; SOX11; cleft palate.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Cleft Palate / genetics*
  • Face / abnormalities*
  • Female
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Micrognathism / genetics*
  • Neck / abnormalities*
  • Phenotype
  • Point Mutation
  • SOXC Transcription Factors / genetics*
  • Sequence Deletion


  • SOX11 protein, human
  • SOXC Transcription Factors

Supplementary concepts

  • Coffin-Siris syndrome