Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

doi:10.1038/s41431-024-01629-4

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Article

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

European journal of human genetics : EJHG - 1 Jul 2024

Stanley Kaitlin J, Kalbfleisch Kelsey J, Moran Olivia M, Chaturvedi Rajiv R, Roifman Maian, Chen Xin, Manshaei Roozbeh, Martin Nicole, McDermott Simina, McNiven Vanda, Myles-Reid Diane, Nield Lynne E, Reuter Miriam S, Schwartz Marci L B, Shannon Patrick, Silver Rachel, Somerville Cherith, Teitelbaum Ronni, Zahavich Laura, Bassett Anne S, Kim Raymond H, Mital Seema, Chitayat David, Jobling Rebekah K

Abstract excerpt

Pathogenic variants in NOTCH1 are associated with non-syndromic congenital heart disease (CHD) and Adams-Oliver syndrome (AOS). The clinical presentation of individuals with damaging NOTCH1 variants is characterized by variable expressivity and incomplete penetrance; however, data on systematic phenotypic characterization are limited. We report the genotype and phenotype of a cohort of 33 individuals (20 females,...

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Identifiers

PMID: 38778082
DOI: 10.1038/s41431-024-01629-4
PMCID: PMC11219983

Genes

NOTCH1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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