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

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.

European journal of human genetics : EJHG - 1 Apr 2023

Neyroud Anne Sophie, Rudinger-Thirion Joëlle, Frugier Magali, Riley Lisa G, Bidet Maud, Akloul Linda, Simpson Andrea, Gilot David, Christodoulou John, Ravel Célia, Sinclair Andrew H, Belaud-Rotureau Marc-Antoine, Tucker Elena J, Jaillard Sylvie

Abstract excerpt

Premature ovarian insufficiency (POI) affects 1 in 100 women and is a leading cause of female infertility. There are over 80 genes in which variants can cause POI, with these explaining only a minority of cases. Whole exome sequencing (WES) can be a useful tool for POI patient management, allowing clinical care to be personalized to underlying cause. We performed WES to investigate two French sisters, whose only...

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 Deafness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss

Share to Hearing Loss, Sensorineural

Share to Mutation

Share to Primary Ovarian Insufficiency

Source

Open in PubMed Open full text

Identifiers

PMID: 36450801
DOI: 10.1038/s41431-022-01252-1
PMCID: PMC10133321

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.PMID 36450801Read ↗

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

Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss.Semantic proximity Read ↗

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

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

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

Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss.Semantic proximity Read ↗

Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene.Semantic proximity Read ↗

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

LARS2-Related Perrault Syndrome in Siblings With 46,XY Differences of Sex Development.Semantic proximity Read ↗

Expanding the genotypic spectrum of Perrault syndrome.Semantic proximity Read ↗

Marfanoid habitus is a nonspecific feature of Perrault syndrome.Semantic proximity Read ↗

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