RGD Reference Report - Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. - Rat Genome Database

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Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.

Authors: Thompson, DA  Li, Y  McHenry, CL  Carlson, TJ  Ding, X  Sieving, PA  Apfelstedt-Sylla, E  Gal, A 
Citation: Thompson DA, etal., Nat Genet. 2001 Jun;28(2):123-4.
RGD ID: 1599754
Pubmed: PMID:11381255   (View Abstract at PubMed)
DOI: DOI:10.1038/88828   (Journal Full-text)

The chromophore of the visual pigments, 11-cis retinal, is derived from vitamin A (all-trans retinol) through a series of reactions that take place in retinal pigment epithelium (RPE); (ref. 1). The first of these reactions is catalyzed by lecithin retinol acyltransferase (LRAT); (ref. 2). We screened 267 retinal dystrophy patients for mutations in LRAT and identified disease-associated mutations (S175R and 396delAA) in three individuals with severe, early-onset disease. We showed that the S175R mutant has no acyltransferase activity in transfected COS-7 cells. Our findings highlight the importance of genetic defects in vitamin A metabolism as causes of retinal dystrophies and extend prospects for retinoid replacement therapy in this group of diseases.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
retinitis pigmentosa  IAGP 1599754early-onset severe retinal dystrophy and OMIM:604863RGD 
retinitis pigmentosa  ISOLRAT (Homo sapiens)1599754; 1599754early-onset severe retinal dystrophy and OMIM:604863RGD 

Objects Annotated

Genes (Rattus norvegicus)
Lrat  (lecithin retinol acyltransferase)

Genes (Mus musculus)
Lrat  (lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase))

Genes (Homo sapiens)
LRAT  (lecithin retinol acyltransferase)


Additional Information