Discover Community Create You

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

Article

An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.

Human molecular genetics - 1 Mar 1999

Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, Beckmann J S, Loiselet J, Petit C

Abstract excerpt

In our efforts to identify new loci responsible for non-syndromic autosomal recessive forms of deafness, DFNB loci, we have pursued the analysis of large consanguineous affected families living in geographically isolated areas. Here, we report on the study of a Lebanese family comprising nine members presenting with a pre-lingual severe to profound sensorineural isolated form of deafness. Linkage analysis led to...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Chromosome Mapping

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to DNA Primers

Share to Genes, Dominant

Share to Genetic Linkage

Share to Heterozygote

Share to Pedigree

Source

Identifiers

PMID: 9949200
DOI: 10.1093/hmg/8.3.409

Genes

TECTA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.PMID 9949200Read ↗

Identification of a Novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressive sensorineural hearing impairment.Semantic proximity Read ↗

A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.Semantic proximity Read ↗

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.Semantic proximity Read ↗

A novel TECTA mutation causes ARNSHL.Semantic proximity Read ↗

Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.Semantic proximity Read ↗

Identification and functional characterization of novel compound heterozygotic mutations in the TECTA gene.Semantic proximity Read ↗

A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.Semantic proximity Read ↗

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.Semantic proximity Read ↗

A novel splicing variant in TECTA associated with prelingual autosomal dominant nonsyndromic hearing loss via dominant-negative effect.Semantic proximity Read ↗

Characterization of a spontaneous, recessive, missense mutation arising in the Tecta gene.Semantic proximity Read ↗

A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations.Semantic proximity Read ↗

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.Semantic proximity Read ↗

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