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

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

International journal of pediatric otorhinolaryngology - 1 Aug 2016

Behlouli Asma, Bonnet Crystel, Abdi Samia, Hasbellaoui Mokhtar, Boudjenah Farid, Hardelin Jean-Pierre, Louha Malek, Makrelouf Mohamed, Ammar-Khodja Fatima, Zenati Akila, Petit Christine

Abstract excerpt

Congenital deafness is certainly one of the most common monogenic diseases in humans, but it is also one of the most genetically heterogeneous, which makes molecular diagnosis challenging in most cases. Whole-exome sequencing in two out of three Algerian siblings affected by recessively-inherited, moderate to severe sensorineural deafness allowed us to identify a novel splice donor site mutation (c.5272+1G > A)...

Read the complete abstract on PubMed

Topics

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

Share to Algeria
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to GPI-Linked Proteins

Share to Hearing Loss, Sensorineural

Share to Heterozygote

Share to Homozygote

Share to RNA Splice Sites

Source

Identifiers

PMID: 27368438
DOI: 10.1016/j.ijporl.2016.04.040

Genes

TECTA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.PMID 27368438Read ↗

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

A novel TECTA mutation causes ARNSHL.Semantic proximity Read ↗

Splice-altering variant in TECTA as a cause of hearing loss DFNA8/12Semantic proximity Read ↗

Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province.Semantic proximity Read ↗

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

Clinical relevance of the TECTA c.6183G>T variant identified in a family with autosomal dominant hearing loss: a case report.Semantic proximity Read ↗

Ultrarare missense and frameshift variants in the <i>TECTA</i> gene may involve tectorial membrane in familial Meniere diseaseSemantic proximity Read ↗

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

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

A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family.Semantic proximity Read ↗

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

Reevaluating the splice-altering variant in TECTA as a cause of nonsyndromic hearing loss DFNA8/12 by functional analysis of RNASemantic proximity Read ↗

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