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Article

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity.

European journal of human genetics : EJHG - 1 Apr 2021

Blakes Alexander J M, Gaul Emily, Lam Wayne, Shannon Nora, Knapp Karen M, Bicknell Louise S, Jackson Meremaihi R, Wade Emma M, Robertson Stephen, White Susan M, Heller Raoul, Chase Andrew, Baralle Diana, Douglas Andrew G L

Abstract excerpt

ABL1 is a proto-oncogene encoding a nonreceptor tyrosine kinase, best known in the somatic BCR-ABL fusion gene associated with chronic myeloid leukaemia. Recently, germline missense variants in ABL1 have been found to cause an autosomal dominant developmental syndrome with congenital heart disease, skeletal malformations and characteristic facies. Here, we describe a series of six new unrelated individuals with...

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Identifiers

PMID: 33223528
DOI: 10.1038/s41431-020-00766-w
PMCID: PMC8115115

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