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.
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