Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

doi:10.1016/j.ajhg.2010.07.004

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Article

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

American journal of human genetics - 13 Aug 2010

Bandah-Rozenfeld Dikla, Collin Rob W J, Banin Eyal, van den Born L Ingeborgh, Coene Karlien L M, Siemiatkowska Anna M, Zelinger Lina, Khan Muhammad I, Lefeber Dirk J, Erdinest Inbar, Testa Francesco, Simonelli Francesca, Voesenek Krysta, Blokland Ellen A W, Strom Tim M, Klaver Caroline C W, Qamar Raheel, Banfi Sandro, Cremers Frans P M, Sharon Dror, den Hollander Anneke I

Abstract excerpt

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases caused by progressive degeneration of the photoreceptor cells. Using autozygosity mapping, we identified two families, each with three affected siblings sharing large overlapping homozygous regions that harbored the IMPG2 gene on chromosome 3. Sequence analysis of IMPG2 in the two index cases revealed homozygous mutations...

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Identifiers

PMID: 20673862
DOI: 10.1016/j.ajhg.2010.07.004
PMCID: PMC2917719

Genes

IMPG2
SEA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.PMID 20673862Read ↗

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