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Publication year
2009Source
American Journal of Human Genetics, 84, 3, (2009), pp. 380-7ISSN
Publication type
Article / Letter to editor
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Organization
Ophthalmology
Human Genetics
Journal title
American Journal of Human Genetics
Volume
vol. 84
Issue
iss. 3
Page start
p. 380
Page end
p. 7
Subject
IGMD 3: Genomic disorders and inherited multi-system disorders; NCEBP 2: Evaluation of complex medical interventions; NCMLS 6: Genetics and epigenetic pathways of diseaseAbstract
Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are the most common hereditary causes of visual impairment in infants and children. Using homozygosity mapping, we narrowed down the critical region of the LCA3 locus to 3.8 Mb between markers D14S1022 and D14S1005. By direct Sanger sequencing of all genes within this region, we found a homozygous nonsense mutation in the SPATA7 gene in Saudi Arabian family KKESH-060. Three other loss-of-function mutations were subsequently discovered in patients with LCA or juvenile RP from distinct populations. Furthermore, we determined that Spata7 is expressed in the mature mouse retina. Our findings reveal another human visual-disease gene that causes LCA and juvenile RP.
This item appears in the following Collection(s)
- Academic publications [238441]
- Electronic publications [122508]
- Faculty of Medical Sciences [90373]
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