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The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.

Human mutation - 1 Oct 2020

Chen Chun-An, Crutcher Emeline, Gill Harinder, Nelson Tanya N, Robak Laurie A, Jongmans Marjolijn C J, Pfundt Rolph, Prasad Chitra, Berard Roberta A, Fannemel Madeleine, Frengen Eirik, Misceo Doriana, Ramsey Keri, Yang Yaping, Schaaf Christian P, Wang Xia

Abstract excerpt

Congenital heart defects and skeletal malformations syndrome (CHDSKM) is a rare autosomal dominant disorder characterized by congenital heart disease, skeletal abnormalities, and failure to thrive. CHDSKM is caused by germline mutations in ABL1. To date, three variants have been in association with CHDSKM. In this study, we describe three de novo missense variants, c.407C>T (p.Thr136Met), c.746C>T (p.Pro249Leu),...

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PMID: 32643838
DOI: 10.1002/humu.24075

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