Article

Evolutionary Analyses and Identification of Rare Pathogenic Variant in The MCPH1 BRCT3 Domain Broaden Its Role in Non-syndromic Hearing Impairment

2022-07-06

Abstract excerpt

<title>Abstract</title> <p>Human mouse orthologous hearing impairment genes were investigated in African patients for causal variants. A homozygous mutation in the exon 13 BRCT3 of microcephalin1 (<italic>MCPH1)</italic> gene was reported in non-syndromic hearing impairment (NSHI). The present study screened multiplex families; ninety (n=90) patients and 106 controls from Cameroon and South Africa. The estimated...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9dc06337-bb65-57f0-8869-1b1913604361
DOI: 10.21203/rs.3.rs-1815312/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Evolutionary Analyses and Identification of Rare Pathogenic Variant in The MCPH1 BRCT3 Domain Broaden Its Role in Non-syndromic Hearing ImpairmentDOI 10.21203/rs.3.rs-1815312/v1Read

Whole exome sequencing identifies rare coding variants in novel human-mouse ortholog genes in African individuals diagnosed with non-syndromic hearing impairment.Semantic proximity Read

Elucidating Biological Roles of Novel Murine Genes in Hearing Impairment in AfricaSemantic proximity Read

A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana.Semantic proximity Read

Genetic and functional evidence implicates a <i>CRIP3</i> non-synonymous variant in age-related hearing lossSemantic proximity Read

Leveraging human-mouse studies to advance the genetics of hearing impairment in Africa.Semantic proximity Read

Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.Semantic proximity Read

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.Semantic proximity Read

Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) using Next Generation Sequencing (NGS)Semantic proximity Read

A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans.Semantic proximity Read

Hearing Impairment Overview in Africa: the Case of Cameroon.Semantic proximity Read

Rational design of a genomically humanized mouse model for dominantly inherited hearing loss, DFNA9.Semantic proximity Read

A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene.Semantic proximity Read