ArticleCardiovascular research2017
The HAND1 frameshift A126FS mutation does not cause hypoplastic left heart syndrome in mice.
Article in Cardiovascular research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 17 citations in OpenAlex.
- Pathophysiological Significance of Variants of the HAND1 Gene Promoter in Congenital Atrial Septal Defects: A Study in 632 Chinese Subjects.Human mutation · 2026Article
- Hand1 gene replacement with Hand2 reveals overlap in function with unique occurrence of omphalocele and heart defects.Development (Cambridge, England) · 2025Article
- Review
- Identification and characterization of Hand2 upstream genomic enhancers active in developing stomach and limbs.Developmental dynamics : an official publication of the American Association of Anatomists · 2024Article
- Rare variants inHGG advances · 2023Article
- Induced Pluripotent Stem Cell-Based Modeling of Single-Ventricle Congenital Heart Diseases.Current cardiology reports · 2023Review
- Left-Sided Heart Defects and Laterality Disturbance in Hypoplastic Left Heart Syndrome.Journal of cardiovascular development and disease · 2023Review
- Probing single ventricle heart defects with patient-derived induced pluripotent stem cells and emerging technologies.Birth defects research · 2022Review
- Conditional Mutation of Hand1 in the Mouse Placenta Disrupts Placental Vascular Development Resulting in Fetal Loss in Both Early and Late Pregnancy.International journal of molecular sciences · 2021Article
- Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.Journal of the American Heart Association · 2021Review
- Isolation and next generation sequencing of archival formalin-fixed DNA.Journal of anatomy · 2020Article
- HAND1 loss-of-function within the embryonic myocardium reveals survivable congenital cardiac defects and adult heart failure.Cardiovascular research · 2020Article
- Genetics of Congenital Heart Disease.Biomolecules · 2019Review
- Hypoplastic left heart syndrome: From bedside to bench and back.Journal of molecular and cellular cardiology · 2019Review
- Hand Factors in Cardiac Development.Anatomical record (Hoboken, N.J. : 2007) · 2019Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
aimsTo test if a human Hand1 frame shift mutation identified in human samples is causative of hypoplastic left heart syndrome (HLHS). METHODS AND
resultsHLHS is a poorly understood single ventricle congenital heart defect that affects two to three infants in every 10 000 live births. The aetiologies of HLHS are largely unknown. The basic helix-loop-helix transcription factor HAND1 is required for normal heart development. Interrogation of HAND1 sequence from fixed HLHS tissues identified a somatic frame-shift mutation at Alanine 126 (NP_004812.1 p.Ala126Profs13X defined as Hand1A126fs). Hand1A126fs creates a truncated HAND1 protein that predictively functions as dominant negative. To determine if this mutation is causative of HLHS, we engineered a conditional Hand1A126fs mouse allele. Activation of this allele with Nkx2.5Cre results in E14.5 lethality accompanied by cardiac outflow tract and intraventricular septum abnormalities. Using αMHC-Cre or Mef2CAHF-Cre to activate Hand1A126fs results in reduced phenotype and limited viability. Left ventricles of Hand1A126FS mutant mice are not hypoplastic.
conclusionsSomatically acquired Hand1A126FS mutation is not causative of HLHS. Hand1A126FS mutation does exhibit embryonic lethal cardiac defects that reflect a dominant negative function supporting the critical role of Hand1 in cardiogenesis.
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