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Updated: Jul 14, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Partial duplications of the ATRX gene cause the ATR-X syndrome
Bernard Thienpont1, Thomy de Ravel, Hilde Van Esch
1Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.
Abstract:
ATR-X syndrome is a rare syndromic X-linked mental retardation disorder. We report that some of the patients suspected of ATR-X carry large intragenic duplications in the ATRX gene, leading to an absence of ATRX mRNA and of the protein. These findings underscore the need for including quantitative analyses to mutation analysis of the ATRX gene.
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