Department of Surgery, King Saud University, Riyadh, Saudi Arabia.
Gene. 2013 Sep 10;526(2):471-3. doi: 10.1016/j.gene.2013.05.046. Epub 2013 Jun 1.
The gene mutation for oral-facial digital syndrome type II (Mohr syndrome) is unknown. We describe a Saudi female infant with Mohr syndrome. An unclassified variant: c.2044 A>G, p.T682A in exon 12 of the GLI3 gene in a heterozygous state was identified in the infant. Mutation Taster (http://www.mutationtaster.org) considers this variant as "disease causing". However, when the unaffected parents were tested, the father was found to have the same variant, also in a heterozygous state. Hence, the pathogenic role of this variant seems unlikely; although apparent non-penetrance remains a possibility.
口腔面指综合征 II 型（Mohr 综合征）的基因突变尚不清楚。我们描述了一例沙特女性婴儿患有 Mohr 综合征。在该婴儿中发现了 GLI3 基因第 12 外显子的未分类变异：c.2044A>G，p.T682A，杂合状态。Mutation Taster（http://www.mutationtaster.org）认为这种变体是“致病的”。然而，当对未受影响的父母进行检测时，发现父亲也同样携带这种变体，也是杂合状态。因此，这种变异的致病作用似乎不太可能；尽管明显的外显率仍然是一种可能性。
