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

Expanding the genotypic spectrum of Perrault syndrome.

Clinical genetics - 1 Feb 2017

Demain L A M, Urquhart J E, O'Sullivan J, Williams S G, Bhaskar S S, Jenkinson E M, Lourenco C M, Heiberg A, Pearce S H, Shalev S A, Yue W W, Mackinnon S, Munro K J, Newbury-Ecob R, Becker K, Kim M J, O' Keefe R T, Newman W G

Abstract excerpt

Perrault syndrome is a rare autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) in both sexes and primary ovarian insufficiency in 46, XX karyotype females. Biallelic variants in five genes are reported to be causative: HSD17B4, HARS2, LARS2, CLPP and C10orf2. Here we present eight families affected by Perrault syndrome. In five families we identified novel or previously reported...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acyl-tRNA Synthetases
Share to DNA Helicases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endopeptidase Clp

Share to Hearing Loss, Sensorineural

Share to Homozygote

Share to Mitochondrial Proteins

Share to Primary Ovarian Insufficiency

Source

Identifiers

PMID: 26970254
DOI: 10.1111/cge.12776

Genes

LARS2
CLPP
HARS2

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

Expanding the genotypic spectrum of Perrault syndrome.PMID 26970254Read ↗

Comprehensive Insights into Perrault Syndrome: Genetic Diversity and Clinical Implications.Semantic proximity Read ↗

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.Semantic proximity Read ↗

New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.Semantic proximity Read ↗

LARS2-Perrault syndrome: a new case report and literature review.Semantic proximity Read ↗

Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms.Semantic proximity Read ↗

Genotype and phenotype heterogeneity in perrault syndrome.Semantic proximity Read ↗

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.Semantic proximity Read ↗

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.Semantic proximity Read ↗

Perrault syndrome: Clinical report and retrospective analysis.Semantic proximity Read ↗

A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.Semantic proximity Read ↗

Two novel likely pathogenic variants of HARS2 identified in a Chinese family with Perrault syndromeSemantic proximity Read ↗

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.Semantic proximity Read ↗

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