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.