Ontology highlight
ABSTRACT:
SUBMITTER: Wang X
PROVIDER: S-EPMC5373987 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Wang Xia X Charng Wu-Lin WL Chen Chun-An CA Rosenfeld Jill A JA Al Shamsi Aisha A Al-Gazali Lihadh L McGuire Marianne M Mew Nicholas Ah NA Arnold Georgianne L GL Qu Chunjing C Ding Yan Y Muzny Donna M DM Gibbs Richard A RA Eng Christine M CM Walkiewicz Magdalena M Xia Fan F Plon Sharon E SE Lupski James R JR Schaaf Christian P CP Yang Yaping Y
Nature genetics 20170313 4
ABL1 is a proto-oncogene well known as part of the fusion gene BCR-ABL1 in the Philadelphia chromosome of leukemia cancer cells. Inherited germline ABL1 changes have not been associated with genetic disorders. Here we report ABL1 germline variants cosegregating with an autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities, and failure to thrive. The variant c.734A>G (p.Tyr245Cys) was found to occur de novo or cosegregate with disease in five individuals (f ...[more]