Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

doi:10.1016/j.ajhg.2009.05.007

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Article

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

American journal of human genetics - 1 Jun 2009

Friedman James S, Ray Joseph W, Waseem Naushin, Johnson Kory, Brooks Matthew J, Hugosson Therése, Breuer Debra, Branham Kari E, Krauth Daniel S, Bowne Sara J, Sullivan Lori S, Ponjavic Vesna, Gränse Lotta, Khanna Ritu, Trager Edward H, Gieser Linn M, Hughbanks-Wheaton Dianna, Cojocaru Radu I, Ghiasvand Noor M, Chakarova Christina F, Abrahamson Magnus, Göring Harald H H, Webster Andrew R, Birch David G, Abecasis Goncalo R, Fann Yang, Bhattacharya Shomi S, Daiger Stephen P, Heckenlively John R, Andréasson Sten, Swaroop Anand

Abstract excerpt

Retinitis pigmentosa (RP) refers to a genetically heterogeneous group of progressive neurodegenerative diseases that result in dysfunction and/or death of rod and cone photoreceptors in the retina. So far, 18 genes have been identified for autosomal-dominant (ad) RP. Here, we describe an adRP locus (RP42) at chromosome 7p15 through linkage analysis in a six-generation Scandinavian family and identify a...

Topics

Amino Acid Sequence
Autoantigens
Chromosomes, Human, Pair 7
Enzyme-Linked Immunosorbent Assay
Gene Expression Profiling
Genes, Dominant
Genetic Linkage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Immunoblotting

Molecular Sequence Data

Mutation, Missense

Oligonucleotide Array Sequence Analysis

Pedigree

Polymorphism, Single Nucleotide

Retinitis Pigmentosa

Reverse Transcriptase Polymerase Chain Reaction

Sequence Homology, Amino Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 19520207
DOI: 10.1016/j.ajhg.2009.05.007
PMCID: PMC2694974

Genes

KLHL7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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