Nonsense variants of STAG2 result in distinct congenital anomalies.
Hum Genome Var
; 7: 26, 2020.
Article
em En
| MEDLINE
| ID: mdl-33014403
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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1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Hum Genome Var
Ano de publicação:
2020
Tipo de documento:
Article