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Nonsense variants of STAG2 result in distinct congenital anomalies


ABSTRACT: Herein, we report two female cases with novel nonsense mutations of STAG2 at Xq25, encoding stromal antigen 2, a component of the cohesion complex. Exome analysis identified c.3097?C>T, p.(Arg1033*) in Case 1 (a fetus with multiple congenital anomalies) and c.2229?G>A, p.(Trp743*) in Case 2 (a 7-year-old girl with white matter hypoplasia and cleft palate). X inactivation was highly skewed in both cases.

SUBMITTER: Aoi H 

PROVIDER: S-EPMC7501222 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature

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