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

Abnormalities, Multiple / diagnosis Germ Cells Heart Defects, Congenital / genetics Humans Phenotype Syndrome
CHDSKM congenital heart defects hearing impairment renal hypoplasia skeletal malformations

Journal

Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429

Informations de publication

Date de publication:
10 2020
Historique:
revised: 23 06 2020
received: 04 01 2020
accepted: 02 07 2020
pubmed: 10 7 2020
medline: 1 4 2022
entrez: 10 7 2020
Statut: ppublish

Résumé

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), and c.1573G>A (p.Val525Met), and one recurrent variant, c.1066G>A (p.Ala356Thr), in six patients, thereby expanding the phenotypic spectrum of CHDSKM to include hearing impairment, lipodystrophy-like features, renal hypoplasia, and distinct ocular abnormalities. Functional investigation of the three novel variants showed an increased ABL1 kinase activity. The cardiac findings in additional patients with p.Ala356Thr contribute to the accumulating evidence that patients carrying either one of the recurrent variants, p.Tyr245Cys and p.Ala356Thr, have a high incidence of cardiac abnormalities. The phenotypic expansion has implications for the clinical diagnosis of CHDSKM in patients with germline ABL1 variants.

Identifiants

DOI: 10.1002/humu.24075 PMID: 32643838
pubmed: 32643838
doi: 10.1002/humu.24075
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1738-1744

Informations de copyright

© 2020 Wiley Periodicals LLC.

Références

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Auteurs

Chun-An Chen (CA)

Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas.
Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas.

Emeline Crutcher (E)

Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas.
Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas.
Development, Disease Models, and Therapeutics Graduate Program, Baylor College of Medicine, Houston, Texas.

Harinder Gill (H)

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Provincial Medical Genetics Program, BC Women's Hospital and Health Centre, Vancouver, British Columbia, Canada.

Tanya N Nelson (TN)

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Department of Pathology and Laboratory Medicine, BC Children's Hospital, Vancouver, British Columbia, Canada.
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.

Laurie A Robak (LA)

Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas.

Marjolijn C J Jongmans (MCJ)

Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

Rolph Pfundt (R)

Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

Chitra Prasad (C)

Genetics and Development, Children's Health Research Institute, London, Ontario, Canada.
Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

Roberta A Berard (RA)

Genetics and Development, Children's Health Research Institute, London, Ontario, Canada.
Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
Division of Rheumatology, Children's Hospital, London, Ontario, Canada.

Madeleine Fannemel (M)

Department of Medical Genetics, Rikshospitalet, Oslo University Hospital, Oslo, Norway.

Eirik Frengen (E)

Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.

Doriana Misceo (D)

Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.

Keri Ramsey (K)

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona.

Yaping Yang (Y)

Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas.
Baylor Genetics, Houston, Texas.
AiLife Diagnostics, Pearland, Texas.

Christian P Schaaf (CP)

Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas.
Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas.
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

Xia Wang (X)

Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas.
Baylor Genetics, Houston, Texas.
AiLife Diagnostics, Pearland, Texas.
ORCID: 0000-0002-7750-1167

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Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations multiples › The expanding clinical phenotype of germline...
questionsmedicales.fr › Cellules › Cellules germinales › The expanding clinical phenotype of germline...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations cardiovasculaires › Cardiopathies congénitales › The expanding clinical phenotype of germline...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The expanding clinical phenotype of germline...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › The expanding clinical phenotype of germline...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Maladie › Syndrome › The expanding clinical phenotype of germline...