RGD Reference Report - Prevalence of AIPL1 mutations in inherited retinal degenerative disease. - Rat Genome Database

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Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

Authors: Sohocki, MM  Perrault, I  Leroy, BP  Payne, AM  Dharmaraj, S  Bhattacharya, SS  Kaplan, J  Maumenee, IH  Koenekoop, R  Meire, FM  Birch, DG  Heckenlively, JR  Daiger, SP 
Citation: Sohocki MM, etal., Mol Genet Metab. 2000 Jun;70(2):142-50.
RGD ID: 1599003
Pubmed: PMID:10873396   (View Abstract at PubMed)
DOI: DOI:10.1006/mgme.2000.3001   (Journal Full-text)

Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy and the most frequent cause of inherited blindness in children. LCA is usually inherited in an autosomal recessive fashion, although rare dominant cases have been reported. One form of LCA, LCA4, maps to chromosome 17p13 and is genetically distinct from other forms of LCA. We recently identified the gene associated with LCA4, AIPL1 (aryl-hydrocarbon interacting protein-like 1) and identified three mutations that were the cause of blindness in five families with LCA. In this study, AIPL1 was screened for mutations in 512 unrelated probands with a range of retinal degenerative diseases to determine if AIPL1 mutations cause other forms of inherited retinal degeneration and to determine the relative contribution of AIPL1 mutations to inherited retinal disorders in populations worldwide. We identified 11 LCA families whose retinal disorder is caused by homozygous or compound heterozygous AIPL1 mutations. We also identified affected individuals in two apparently dominant families, diagnosed with juvenile retinitis pigmentosa or dominant cone-rod dystrophy, respectively, who are heterozygous for a 12-bp AIPL1 deletion. Our results suggest that AIPL1 mutations cause approximately 7% of LCA worldwide and may cause dominant retinopathy.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
blindness susceptibilityIAGP 1599003 RGD 
blindness susceptibilityISO1599003; 1599003 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Aipl1  (aryl hydrocarbon receptor-interacting protein-like 1)

Genes (Mus musculus)
Aipl1  (aryl hydrocarbon receptor-interacting protein-like 1)

Genes (Homo sapiens)
AIPL1  (aryl hydrocarbon receptor interacting protein like 1)


Additional Information