Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families

查看全文 作　　者：Muhammad [1]Dawood;Siying [2]Lin;Taj Ud [1]Din;Irfan Ullah [3]Shah;Niamat [1]Khan;Abid [1]Jan;Muhammad [1]Marwan;Komal [1]Sultan;Maha [1]Nowshid;Raheel [1]Tahir;Asif Naveed [1]Ahmed;Muhammad [1]Yasin;Emma [2]LBaple;Andrew [2]HCrosby;Shamim [1]Saleha 机构地区：[1]Department of Biotechnology and Genetic Engineering,Kohat University of Science and Technology(KUST),Kohat 26000,Khyber Pakhtunkhwa,Pakistan;[2]Medical Research,RILD Wellcome Wolfson Centre(Level 4),Royal Devon and Exeter NHS Foundation Trust,Exeter,Devon EX25DW,UK;[3]Department of Ophthalmology,KMU Institute of Medical Sciences(KIMS)Kohat 26000,Khyber Pakhtunkhwa,Pakistan 出　　处：《International Journal of Ophthalmology(English edition)》索引2021年第14卷第12期,共9页 基　　金：the Kohat University of Science and Technology,Kohat,Pakistan and RILD Wellcome Wolfson Centre(Level 4),Royal Devon and Exeter NHS Foundation Trust,UK. 摘　　要：AIM:To investigate the genetic basis of autosomal recessive retinitis pigmentosa(arRP)in two consanguineous/endogamous Pakistani families.METHODS:Whole exome sequencing(WES)was performed on genomic DNA samples of patients with arRP to identify disease causing mutations.Sanger sequencing was performed to confirm familial segregation of identified mutations,and potential pathogenicity was determined by predictions of the mutations’functions.RESULTS:A novel homozygous frameshift mutation[NM_000440.2:c.1054delG,p.(Gln352Argfs*4);Chr5:g.149286886del(GRCh37)]in the PDE6A gene in an endogamous family and a novel homozygous splice site mutation[NM_033100.3:c.1168-1G>A,Chr10:g.85968484G>A(GRCh37)]in the CDHR1 gene in a consanguineous family were identified.The PDE6A variant p.(Gln352Argfs*4)was predicted to be deleterious or pathogenic,whilst the CDHR1 variant c.1168-1G>A was predicted to result in potential alteration of splicing.CONCLUSION:This study expands the spectrum of genetic variants for arRP in Pakistani families. 关 键 词：autosomal recessive retinitis pigmentosa PDE6A CDHR1 VARIANTS Pakistani families