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

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Molecular genetics and genomics : MGG - 1 Aug 2015

Chakchouk Imen, Grati M'hamed, Bademci Guney, Bensaid Mariem, Ma Qi, Chakroun Amine, Foster Joseph, Yan Denise, Duman Duygu, Diaz-Horta Oscar, Ghorbel Abdelmonem, Mittal Rahul, Farooq Amjad, Tekin Mustafa, Masmoudi Saber, Liu Xue Zhong

Abstract excerpt

Hearing loss (HL) is a major public health issue. It is clinically and genetically heterogeneous.The identification of the causal mutation is important for early diagnosis, clinical follow-up, and genetic counseling. HL due to mutations in COL11A2, encoding collagen type XI alpha-2, can be non-syndromic autosomal-dominant or autosomal-recessive, and also syndromic as in Otospondylomegaepiphyseal Dysplasia,...

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type XI
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Genes, Recessive

Share to Hearing Loss, Sensorineural

Share to Mutation, Missense

Share to Sequence Homology, Amino Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 25633957
DOI: 10.1007/s00438-015-0995-9
PMCID: PMC4707654

Variants

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

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.PMID 25633957Read ↗

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locusSemantic proximity Read ↗

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.Semantic proximity Read ↗

Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locusSemantic proximity Read ↗

Identification of novel gene variants causing autosomal recessive non-syndromic hearing loss in Iranian familiesSemantic proximity Read ↗

Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.Semantic proximity Read ↗

Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2: a case reportSemantic proximity Read ↗

Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis.Semantic proximity Read ↗

A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I.Semantic proximity Read ↗

Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implicationsSemantic proximity Read ↗

COCH-Related Hearing Loss in a French Cohort: Novel Variants and Genotype-Phenotype Correlations.Semantic proximity Read ↗

Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.Semantic proximity Read ↗

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.Semantic proximity Read ↗

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