Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.

doi:10.1111/cge.14312

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

Community

Back to search

Article

Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.

Clinical genetics - 1 Jun 2023

Faridi Rabia, Yousaf Rizwan, Gu Shoujun, Inagaki Sayaka, Turriff Amy E, Pelstring Keith, Guan Bin, Naik Amelia, Griffith Andrew J, Adadey Samuel Mawuli, Aboagye Elvis Twumasi, Awandare Gordon A, Morell Robert J, Tsilou Ekaterini, Noyes Amanda G, Sulmonte Laura A G, Wonkam Ambroise, Schrauwen Isabelle, Leal Suzanne M, Azaiez Hela, Brewer Carmen C, Riazuddin Sheikh, Hufnagel Robert B, Hoa Michael, Zein Wadih M, de Dios J Karl, Friedman Thomas B

Abstract excerpt

Hereditary deafness and retinal dystrophy are each genetically heterogenous and clinically variable. Three small unrelated families segregating the combination of deafness and retinal dystrophy were studied by exome sequencing (ES). The proband of Family 1 was found to be compound heterozygous for NM_004525.3: LRP2: c.5005A > G, p.(Asn1669Asp) and c.149C > G, p.(Thr50Ser). In Family 2, two sisters were found to...

Read the complete abstract on PubMed

Topics

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

Share to Deafness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss

Share to Hearing Loss, Sensorineural

Share to Low Density Lipoprotein Receptor-Related Protein-2

Share to Mice

Share to Myopia

Share to Pedigree

Share to Retinal Dystrophies

Source

Open in PubMed Open full text

Identifiers

PMID: 36807241
DOI: 10.1111/cge.14312
PMCID: PMC11330644

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.PMID 36807241Read ↗

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.Semantic proximity Read ↗

Biallelic mutation of <i>CLRN2</i> causes non-syndromic hearing loss in humansSemantic proximity Read ↗

Characterization of a novel variant in the HR1 domain of <i>MFN2</i> in a patient with ataxia, optic atrophy and sensorineural hearing lossSemantic proximity Read ↗

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.Semantic proximity Read ↗

Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness.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 ↗

Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.Semantic proximity Read ↗

Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.Semantic proximity Read ↗

Molecular basis of congenital and acquired deafness.Semantic proximity Read ↗

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.Semantic proximity Read ↗

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.Semantic proximity Read ↗

Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies.Semantic proximity Read ↗

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