TY - JOUR
T1 - Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa
AU - Wang, Hui
AU - den Hollander, Anneke I.
AU - Moayedi, Yalda
AU - Abulimiti, Abuduaini
AU - Li, Yumei
AU - Collin, Rob W.J.
AU - Hoyng, Carel B.
AU - Lopez, Irma
AU - Bray, Molly
AU - Lewis, Richard Alan
AU - Lupski, James R.
AU - Mardon, Graeme
AU - Koenekoop, Robert K.
AU - Chen, Rui
N1 - Funding Information:
We thank Huawei Xin for his help throughout this project and for his useful comments during the preparation of the manuscript. We are indebted to John Cavender, the Research Director of King Khalid Eye Specialist Hospital at the time of these studies, to the Research Council of KKESH for its financial support, and to the staff of its Research Department for their diligent commitment to this program. In addition, we thank the families reported here for their willing cooperation with these studies. R.A.L. is a Senior Scientific Investigator of Research to Prevent Blindness, New York. We also thank Frans Cremers for his valuable discussions and Lara Bou-Khzam for her technical assistance. This work is supported by grants from the Retinal Research Foundation and the National Eye Institute (R01EY018571) to R.C. R.K.K. is supported by the Foundation Fighting Blindness Canada and the Fonds de la Recherche en Santee du Quebec (FRSQ). A.I.d.H. is supported by grants from the Netherlands Organisation for Scientific Research (916.56.160) and the Foundation Fighting Blindness USA (BR-GE-0606-0349-RAD).
PY - 2009/3/13
Y1 - 2009/3/13
N2 - 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.
AB - 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.
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U2 - 10.1016/j.ajhg.2009.02.005
DO - 10.1016/j.ajhg.2009.02.005
M3 - Article
C2 - 19268277
AN - SCOPUS:61549143392
SN - 0002-9297
VL - 84
SP - 380
EP - 387
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 3
ER -