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

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...

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Autores principales:	Muhammad Dawood, Siying Lin, Taj Ud Din, Irfan Ullah Shah, Niamat Khan, Abid Jan, Muhammad Marwan, Komal Sultan, Maha Nowshid, Raheel Tahir, Asif Naveed Ahmed, Muhammad Yasin, Emma L. Baple, Andrew H. Crosby, Shamim Saleha
Formato:	article
Lenguaje:	EN
Publicado:	Press of International Journal of Ophthalmology (IJO PRESS) 2021
Materias:	autosomal recessive retinitis pigmentosa pde6a cdhr1 variants pakistani families Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/c3bac845aeea470e8176e698a91f0c3b
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spelling	oai:doaj.org-article:c3bac845aeea470e8176e698a91f0c3b2021-11-26T04:02:12ZNovel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families2222-39592227-489810.18240/ijo.2021.12.06https://doaj.org/article/c3bac845aeea470e8176e698a91f0c3b2021-12-01T00:00:00Zhttp://ies.ijo.cn/en_publish/2021/12/20211206.pdfhttps://doaj.org/toc/2222-3959https://doaj.org/toc/2227-4898AIM: 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. (Gln352Argfs4); 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. (Gln352Argfs4) 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.Muhammad DawoodSiying LinTaj Ud DinIrfan Ullah ShahNiamat KhanAbid JanMuhammad MarwanKomal SultanMaha NowshidRaheel TahirAsif Naveed AhmedMuhammad YasinEmma L. BapleAndrew H. CrosbyShamim SalehaPress of International Journal of Ophthalmology (IJO PRESS)articleautosomal recessive retinitis pigmentosapde6acdhr1variantspakistani familiesOphthalmologyRE1-994ENInternational Journal of Ophthalmology, Vol 14, Iss 12, Pp 1843-1851 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	autosomal recessive retinitis pigmentosa pde6a cdhr1 variants pakistani families Ophthalmology RE1-994
spellingShingle	autosomal recessive retinitis pigmentosa pde6a cdhr1 variants pakistani families Ophthalmology RE1-994 Muhammad Dawood Siying Lin Taj Ud Din Irfan Ullah Shah Niamat Khan Abid Jan Muhammad Marwan Komal Sultan Maha Nowshid Raheel Tahir Asif Naveed Ahmed Muhammad Yasin Emma L. Baple Andrew H. Crosby Shamim Saleha Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families
description	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. (Gln352Argfs4); 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. (Gln352Argfs4) 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.
format	article
author	Muhammad Dawood Siying Lin Taj Ud Din Irfan Ullah Shah Niamat Khan Abid Jan Muhammad Marwan Komal Sultan Maha Nowshid Raheel Tahir Asif Naveed Ahmed Muhammad Yasin Emma L. Baple Andrew H. Crosby Shamim Saleha
author_facet	Muhammad Dawood Siying Lin Taj Ud Din Irfan Ullah Shah Niamat Khan Abid Jan Muhammad Marwan Komal Sultan Maha Nowshid Raheel Tahir Asif Naveed Ahmed Muhammad Yasin Emma L. Baple Andrew H. Crosby Shamim Saleha
author_sort	Muhammad Dawood
title	Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families
title_short	Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families
title_full	Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families
title_fullStr	Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families
title_full_unstemmed	Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families
title_sort	novel mutations in pde6a and cdhr1 cause retinitis pigmentosa in pakistani families
publisher	Press of International Journal of Ophthalmology (IJO PRESS)
publishDate	2021
url	https://doaj.org/article/c3bac845aeea470e8176e698a91f0c3b
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Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families

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