Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy.

doi:10.1016/j.ejmg.2024.104968

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy.

European journal of medical genetics - 1 Oct 2024

Jiang Nan, Xu Wenyuan, Abdelhakim Aliaa, Matveyenko Anastasiya, Szabolcs Matthias, Copeland William C, Disco Michele, Iglesias Alejandro, Lee Teresa M, Naini Ali, Ganapathi Mythily

Abstract excerpt

TAF1A, a gene encoding a TATA-box binding protein involved in ribosomal RNA synthesis, is a candidate gene for pediatric cardiomyopathy as biallelic TAF1A variants were reported in two families with affected individuals. Here, we report a third family with two siblings who presented with infantile restrictive cardiomyopathy and carried biallelic missense variants in TAF1A (NM_001201536.1:c.1021G>A p.(Gly341Arg)...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiomyopathy, Restrictive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Histone Acetyltransferases

Share to Infant

Share to Mutation, Missense

Share to Pedigree

Share to Siblings

Share to TATA-Binding Protein Associated Factors

Share to Transcription Factor TFIID

Source

Open in PubMed Open full text

Identifiers

PMID: 39209150
DOI: 10.1016/j.ejmg.2024.104968
PMCID: PMC11426185

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy.PMID 39209150Read ↗

A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy.Semantic proximity Read ↗

Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy.Semantic proximity Read ↗

Biallelic LZTR1 variants in a 49-year-old woman with hypertrophic cardiomyopathy: A clue for considering LZTR1 in adults.Semantic proximity Read ↗

Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant).Semantic proximity Read ↗

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.Semantic proximity Read ↗

Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay.Semantic proximity Read ↗

Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.Semantic proximity Read ↗

Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings.Semantic proximity Read ↗

Mouse variants in Taf1c result in reduced survival to birth.Semantic proximity Read ↗

MTHFD1 Deficiency in Two Unrelated Children: Highlights on Phenotypic Spectrum and Response to Folic Acid Therapy.Semantic proximity Read ↗

Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.Semantic proximity Read ↗

[Clinical feature and molecular diagnostic analysis of the first non-caucasian child with infantile liver failure syndrome type 1].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.