Familial STAG2 germline mutation defines a new human cohesinopathy

Abstract excerpt

Abstract We characterize a novel human cohesinopathy originated from a familial germline mutation of the gene encoding the cohesin subunit STAG2, which we propose to call STAG2-related X-linked Intellectual Deficiency. Five individuals carry a STAG2 p.Ser327Asn (c.980 G > A) variant that perfectly cosegregates with a phenotype of syndromic mental retardation in a characteristic X-linked recessive pattern....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Biomedical Research and Pathophysiology
• Share to Dermatological and Skeletal Disorders
• Share to Digestive system and related health