Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients

Abstract High myopia (HM) is a leading cause of mid-way blindness with a high heritability in East Asia. Although only a few disease genes have been reported, a small proportion of patients could be identified with genetic predispositions. In order to expand the mutation spectrum of the causative ge...

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Autores principales:	Chun-Yun Feng, Xiao-Qiong Huang, Xue-Wen Cheng, Rong-Han Wu, Fan Lu, Zi-Bing Jin
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/8dead2195a5f4cfe956bc53c13cf338c
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spelling	oai:doaj.org-article:8dead2195a5f4cfe956bc53c13cf338c2021-12-02T15:05:46ZMutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients10.1038/s41598-017-01285-32045-2322https://doaj.org/article/8dead2195a5f4cfe956bc53c13cf338c2017-04-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-01285-3https://doaj.org/toc/2045-2322Abstract High myopia (HM) is a leading cause of mid-way blindness with a high heritability in East Asia. Although only a few disease genes have been reported, a small proportion of patients could be identified with genetic predispositions. In order to expand the mutation spectrum of the causative genes in Chinese adult population, we investigated three genes, SLC39A5, LEPREL1 and LRPAP1, in a cohort of 187 independent Chinese patients with high myopia. Sanger sequencing was used to find possible pathogenic mutations, which were further screened in normal controls. After a pipeline of database and predictive assessments filtering, we, thereby, identified totally seven heterozygous mutations in the three genes. Among them, three novel missense mutations, c.860C > T, p.Pro287Leu and c.956G > C, p.Arg319Thr in SLC39A5, c.1982A > G, p.Lys661Arg in LEPREL1, were identified as potentially causative mutations. Additionally, the two heterozygous mutations (c.1582G > A, p.Ala528Thr; c.1982A > G, p.Lys661Arg) in one patient in LEPREL1 gene were reported in this study. Our findings will not only augment the mutation spectrum of these three genes, but also provide insights of the contribution of these genes to adult high myopia in Chinese. However, further studies are still needed to address the pathogenicity of each of the mutations reported in this study.Chun-Yun FengXiao-Qiong HuangXue-Wen ChengRong-Han WuFan LuZi-Bing JinNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Chun-Yun Feng Xiao-Qiong Huang Xue-Wen Cheng Rong-Han Wu Fan Lu Zi-Bing Jin Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients
description	Abstract High myopia (HM) is a leading cause of mid-way blindness with a high heritability in East Asia. Although only a few disease genes have been reported, a small proportion of patients could be identified with genetic predispositions. In order to expand the mutation spectrum of the causative genes in Chinese adult population, we investigated three genes, SLC39A5, LEPREL1 and LRPAP1, in a cohort of 187 independent Chinese patients with high myopia. Sanger sequencing was used to find possible pathogenic mutations, which were further screened in normal controls. After a pipeline of database and predictive assessments filtering, we, thereby, identified totally seven heterozygous mutations in the three genes. Among them, three novel missense mutations, c.860C > T, p.Pro287Leu and c.956G > C, p.Arg319Thr in SLC39A5, c.1982A > G, p.Lys661Arg in LEPREL1, were identified as potentially causative mutations. Additionally, the two heterozygous mutations (c.1582G > A, p.Ala528Thr; c.1982A > G, p.Lys661Arg) in one patient in LEPREL1 gene were reported in this study. Our findings will not only augment the mutation spectrum of these three genes, but also provide insights of the contribution of these genes to adult high myopia in Chinese. However, further studies are still needed to address the pathogenicity of each of the mutations reported in this study.
format	article
author	Chun-Yun Feng Xiao-Qiong Huang Xue-Wen Cheng Rong-Han Wu Fan Lu Zi-Bing Jin
author_facet	Chun-Yun Feng Xiao-Qiong Huang Xue-Wen Cheng Rong-Han Wu Fan Lu Zi-Bing Jin
author_sort	Chun-Yun Feng
title	Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients
title_short	Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients
title_full	Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients
title_fullStr	Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients
title_full_unstemmed	Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients
title_sort	mutational screening of slc39a5, leprel1 and lrpap1 in a cohort of 187 high myopia patients
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/8dead2195a5f4cfe956bc53c13cf338c
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Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients

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