Sequence Variants in TBX6 Are Associated with Disorders of the Müllerian Ducts: An Update.

Autor: Tewes AC, Hucke J, Römer T, Kapczuk K, Schippert C, Hillemanns P, Wieacker P, Ledig S
Jazyk: angličtina
Zdroj: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation [Sex Dev] 2019; Vol. 13 (1), pp. 35-40. Date of Electronic Publication: 2019 Feb 09.
DOI: 10.1159/000496819
Abstrakt: Müllerian 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 encompassing TBX6 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 in TBX6 in patients with müllerian anomalies. Since we suggested TBX6 as a strong candidate, we performed sequential analysis of the TBX6 gene in additional 125 patients with müllerian anomalies, and 2 possibly pathogenic missense variants and 1 nonsense substitution in TBX6 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 in TBX6 and could show that the variant c.484G>A is not causative for disorders of the müllerian ducts in the non-Finnish European population. In summary, we present increasing evidence for association of variants in TBX6 with malformations of the müllerian ducts.
(© 2019 S. Karger AG, Basel.)
Databáze: MEDLINE
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