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Article

Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects.

Pediatric cardiology - 1 Aug 2017

Durbin Matthew D, Cadar Adrian G, Williams Charles H, Guo Yan, Bichell David P, Su Yan Ru, Hong Charles C

Abstract excerpt

Hypoplastic left heart syndrome (HLHS) has been associated with germline mutations in 12 candidate genes and a recurrent somatic mutation in HAND1 gene. Using targeted and whole exome sequencing (WES) of heart tissue samples from HLHS patients, we sought to estimate the prevalence of somatic and germline mutations associated with HLHS. We performed Sanger sequencing of the HAND1 gene on 14 ventricular (9 LV and 5...

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Share to Codon, Nonsense
Share to NOTCH1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germ-Line Mutation

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Share to Polymorphism, Single Nucleotide

Share to Receptor, Notch1

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 28608148
DOI: 10.1007/s00246-017-1650-5
PMCID: PMC5577922

Genes

NOTCH1
HAND1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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