Khan Umair, Study Ddd, Baker Eleanor, Clayton-Smith Jill
1 University of Manchester, Faculty of Biology, Medicine and Health, Manchester, United Kingdom.
2 Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.
Cleft Palate Craniofac J. 2018 Mar;55(3):456-461. doi: 10.1177/1055665617739312. Epub 2017 Dec 14.
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.
We describe a further patient with a mutation in SOX11 and phenotype resembling mild Coffin-Siris syndrome.
This boy had a cleft palate, a feature not previously seen in other patients with SOX11 mutations.
We discuss This adds to the current evidence that SOX11 is a gene involved in palatogenesis.
最近在患有罕见型科芬-西里斯综合征（OMIM 615866）的个体中发现了SOX11基因内的点突变和缺失，该综合征是一种智力障碍综合征，伴有指甲发育不全、小头畸形以及包括宽嘴和突出嘴唇在内的特征性面部特征。
我们描述了另一例SOX11基因发生突变且表型类似于轻度科芬-西里斯综合征的患者。
这个男孩患有腭裂，这是先前其他SOX11基因突变患者未曾出现过的特征。
我们进行了讨论。这进一步证明了SOX11是一个参与腭发育的基因。
