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.
Highlights
1234567890():,; 1234567890():,; 1234567890():,; 1234567890():,; Introduction Cohesin is a multisubunit protein complex consisting of four core proteins: structural maintenance of chromosome 1 (SMC1), structural maintenance of chromosome 3 (SMC3), RAD21 cohesin complex component (RAD21), and stromal antigen (STAG)[1]
The cohesion subunit STAG1, STAG2, or STAG3 can directly attach to a tripartite ring to entrap chromatids[1]
Germline pathogenic variants of genes encoding cohesin subunits and their interacting proteins, such as NIPBL, SMC1A, SMC3, and RAD21, are known to cause developmental disorders referred to as cohesinopathies[3], and these are characterized by intellectual disability (ID), growth retardation, and limb abnormalities[4]
Summary
Hiromi Aoi 1,2, Ming Lei[1], Takeshi Mizuguchi[1], Nobuko Nishioka[3], Tomohide Goto[4], Sahoko Miyama[5], Toshifumi Suzuki[2], Kazuhiro Iwama[1], Yuri Uchiyama[1], Satomi Mitsuhashi[1], Atsuo Itakura[2], Satoru Takeda[2] and Naomichi Matsumoto[1]
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