Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
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.
Wang
Hui
H
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
den Hollander
Anneke I
AI
Moayedi
Yalda
Y
Abulimiti
Abuduaini
A
Li
Yumei
Y
Collin
Rob W J
RW
Hoyng
Carel B
CB
Lopez
Irma
I
Abboud
Emad B
EB
Al-Rajhi
Ali A
AA
Bray
Molly
M
Lewis
Richard Alan
RA
Lupski
James R
JR
Mardon
Graeme
G
Koenekoop
Robert K
RK
Chen
Rui
R
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
D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; C482323:SPATA7 protein, human