TY - JOUR
T1 - Observation of cleft palate in an individual with SOX11 mutation
T2 - Indication of a role for SOX11 in human palatogenesis
AU - Khan, Umair
AU - Study, Ddd
AU - Baker, Eleanor
AU - Clayton-Smith, Jill
PY - 2018/3/1
Y1 - 2018/3/1
N2 - 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.
AB - 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.
KW - Cleft palate
KW - Coffin-Siris syndrome
KW - CSS
KW - SOX11
UR - http://www.scopus.com/inward/record.url?scp=85047659929&partnerID=8YFLogxK
U2 - 10.1177/1055665617739312
DO - 10.1177/1055665617739312
M3 - Article
AN - SCOPUS:85047659929
SN - 1055-6656
VL - 55
SP - 456
EP - 461
JO - Cleft Palate-Craniofacial Journal
JF - Cleft Palate-Craniofacial Journal
IS - 3
ER -