Author:
Dawood Muhammad, ,Din Taj Ud,Shah Irfan Ullah,Khan Niamat,Jan Abid,Marwan Muhammad,Sultan Komal,Nowshid Maha,Tahir Raheel,Ahmed Asif Naveed,Yasin Muhammad,Baple Emma L.,Crosby Andrew H.,Saleha Shamim, , , , , , , , , , , , ,
Abstract
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.
Publisher
Press of International Journal of Ophthalmology (IJO Press)
Cited by
1 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献