Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

摘要

We thank Huawei Xin for his help throughout this project and his useful comments for the preparation of the manuscript. We are indebted to Dr. John Cavender, Dr. Bill Astle, Dr. Mohamad Jaafar, and Mr. Monzer Jabak R.N. 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. Dr. Lewis 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 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.dH. 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).