Nonsense variants of STAG2 result in distinct congenital anomalies View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2020-09-18

AUTHORS

Hiromi Aoi, Ming Lei, Takeshi Mizuguchi, Nobuko Nishioka, Tomohide Goto, Sahoko Miyama, Toshifumi Suzuki, Kazuhiro Iwama, Yuri Uchiyama, Satomi Mitsuhashi, Atsuo Itakura, Satoru Takeda, Naomichi Matsumoto

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. More... »

PAGES

26

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-020-00114-w

DOI

http://dx.doi.org/10.1038/s41439-020-00114-w

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1130927219

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/33014403


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