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 DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

Molecular vision - 1 Jan 2011

Audo Isabelle, Bujakowska Kinga, Mohand-Saïd Saddek, Tronche Sophie, Lancelot Marie-Elise, Antonio Aline, Germain Aurore, Lonjou Christine, Carpentier Wassila, Sahel José-Alain, Bhattacharya Shomi, Zeitz Christina

Abstract excerpt

PURPOSE: To identify the genetic defect of a consanguineous Portuguese family with rod-cone dystrophy and varying degrees of decreased audition. METHODS: A detailed ophthalmic and auditory examination was performed on a Portuguese patient with severe autosomal recessive rod-cone dystrophy. Known genetic defects were excluded by performing autosomal recessive retinitis pigmentosa (arRP) genotyping microarray...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Hearing Loss

Share to Portugal

Share to Retinitis Pigmentosa

Share to Severity of Illness Index

Share to Usher Syndromes

Source

Open in PubMed Open full text

Identifiers

PMID: 21738389
PMCID: PMC3123164

Genes

EYS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.PMID 21738389Read ↗

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.Semantic proximity Read ↗

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.Semantic proximity Read ↗

The phenotypic spectrum of CEP250 gene variants.Semantic proximity Read ↗

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathiesSemantic proximity Read ↗

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.Semantic proximity Read ↗

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.Semantic proximity Read ↗

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.Semantic proximity Read ↗

A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.Semantic proximity Read ↗

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.Semantic proximity Read ↗

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.Semantic proximity Read ↗

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.Semantic proximity Read ↗

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.Semantic proximity Read ↗

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