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

Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery - 1 Sept 2023

Salame Malak, Bonnet Crystel, Moctar Ely Cheikh Mohamed, Brahim Selma Mohamed, Dedy Abdallahi, Vetah Ledour Abdel, Veten Fatimetou, Hamed Cheikh Tijani, Petit Christine, Houmeida Ahmed

Abstract excerpt

PURPOSE: Although recessive mutations in GJB2 are the common genetic etiology of sensorineural hearing impairment (SNHI), variants in LRTOMT gene were also identified, mostly in Middle East and North African populations. METHODS: Using Sanger sequencing we screened the exon 7 of LRTOMT in a cohort of 128 unrelated Mauritanian children with congenital deafness. RESULTS: Only one biallelic missense mutation,...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Connexin 26

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexins

Share to Deafness

Share to Hearing Loss, Sensorineural

Share to Mutation

Source

Identifiers

PMID: 36928321
DOI: 10.1007/s00405-023-07907-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness.PMID 36928321Read ↗

A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.Semantic proximity Read ↗

The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population.Semantic proximity Read ↗

Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness.Semantic proximity Read ↗

Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir.Semantic proximity Read ↗

Etiology and associated GJB2 mutations in Mauritanian children with non-syndromic hearing loss.Semantic proximity Read ↗

Autosomal recessive nonsyndromic deafness genes: a review.Semantic proximity Read ↗

A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.Semantic proximity Read ↗

Heterozygous variants in transmembrane channel-like 1 gene cause autosomal recessive nonsyndromic hearing loss.Semantic proximity Read ↗

A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment.Semantic proximity Read ↗

Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.Semantic proximity Read ↗

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.Semantic proximity Read ↗

Novel mutations in LRTOMT associated with moderate progressive hearing loss in autosomal recessive inheritance.Semantic proximity Read ↗

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