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Nonsense variants of STAG2 result in distinct congenital anomalies

Human Genome Variation (2020) 7(1)
DOI: 10.1038/s41439-020-00114-w
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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.

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Aoi, H., Lei, M., Mizuguchi, T., Nishioka, N., Goto, T., Miyama, S., … Matsumoto, N. (2020). Nonsense variants of STAG2 result in distinct congenital anomalies. Human Genome Variation, 7(1). https://doi.org/10.1038/s41439-020-00114-w

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