title: Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
abstract: 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.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Hui
authors.initials: H
authors.lastname: Wang
authors.forename: Anneke I
authors.initials: AI
authors.lastname: den Hollander
authors.forename: Yalda
authors.initials: Y
authors.lastname: Moayedi
authors.forename: Abuduaini
authors.initials: A
authors.lastname: Abulimiti
authors.forename: Yumei
authors.initials: Y
authors.lastname: Li
authors.forename: Rob W J
authors.initials: RW
authors.lastname: Collin
authors.forename: Carel B
authors.initials: CB
authors.lastname: Hoyng
authors.forename: Irma
authors.initials: I
authors.lastname: Lopez
authors.forename: Emad B
authors.initials: EB
authors.lastname: Abboud
authors.forename: Ali A
authors.initials: AA
authors.lastname: Al-Rajhi
authors.forename: Molly
authors.initials: M
authors.lastname: Bray
authors.forename: Richard Alan
authors.initials: RA
authors.lastname: Lewis
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
authors.forename: Graeme
authors.initials: G
authors.lastname: Mardon
authors.forename: Robert K
authors.initials: RK
authors.lastname: Koenekoop
authors.forename: Rui
authors.initials: R
authors.lastname: Chen
mesh_terms: D000818:Animals; D002648:Child; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D051379:Mice; D008875:Middle Aged; D010375:Pedigree; D012160:Retina / Q000254:growth & development / Q000378:metabolism; D012164:Retinal Diseases / Q000151:congenital / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; C482323:SPATA7 protein, human