Sequence Variants in < b > < i > TBX6 < /i > < /b > Are Associated with Disorders of the M üllerian Ducts: An Update

M üllerian anomalies comprise the Mayer-Rokitansky-Küster-Hauser syndrome as well as fusion defects of the müllerian ducts. Recurrent micro-aberrations like deletions in 16p11.2 encompassingTBX6 were found to be causative in these patients.TBX6 encodes a transcription factor which plays a role in paraxial mesoderm differentiation/specification. In previous studies, we and other groups found possibly pathogenic variants inTBX6 in patients with m üllerian anomalies. Since we suggestedTBX6 as a strong candidate, we performed sequential analysis of theTBX6gene in additional 125 patients with m üllerian anomalies, and 2 possibly pathogenic missense variants and 1 nonsense substitution inTBX6 in 4/125 patients were found. The missense variant c.484G>A, which we have described in a previous study, was reidentified but with no higher frequency as in our controls. We detected 3 possibly pathogenic variants inTBX6 and could show that the variant c.484G>A is not causative for disorders of the m üllerian ducts in the non-Finnish European population. In summary, we present increasing evidence for association of variants inTBX6 with malformations of the m üllerian ducts.Sex Dev
Source: Sexual Development - Category: Biology Source Type: research