Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Hui GuoK Xia

Abstract

High myopia is one of the leading causes of blindness worldwide, with high heritability. However, only a few causative genes have been identified, and the pathogenesis is still unclear. Our aim was to identify a novel causative gene in a family with autosomal-dominant, nonsyndromic high myopia. Whole-genome linkage and whole-exome sequencing were conducted on the family. Real-time quantitative polymerase chain reaction and immunoblotting were applied to test the functional consequence of the candidate mutation. Sanger sequencing was performed to screen for the candidate gene in other families or sporadic cases. A heterozygous missense mutation, c.871G>A (p.Glu291Lys), within P4HA2 was cosegregating with the phenotype in the family. The segregating mutation caused premature degradation of unstable messenger RNA. Subsequent screening for P4HA2 in 186 cases identified an additional four mutations in 5 cases, including the frameshift mutation c.1349_1350delGT (p.Arg451Glyfs*8), the nonsense mutation c.1327A>G (p.Lys443*), and two deleterious missense mutations, c.419A>G (p.Gln140Arg) and c.448A>G (p.Ile150Val). The missense mutation c.419A>G (p.Gln140Arg) was recurrently identified in a sporadic case and was segregating in a three-...Continue Reading

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Citations

Mar 18, 2016·Journal of Zhejiang University. Science. B·Fang-yu LinWei Han
Apr 24, 2016·Clinica Chimica Acta; International Journal of Clinical Chemistry·Nan GaiLing-Qian Wu
May 18, 2016·Biochemistry·James D Vasta, Ronald T Raines
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Aug 5, 2016·Asia-Pacific Journal of Ophthalmology·Chi Pui Pang
Apr 5, 2017·Proceedings of the National Academy of Sciences of the United States of America·Zi-Bing JinJia Qu
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Jun 14, 2019·Journal of Medical Genetics·Hong PanBinbin Wang
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Jul 1, 2021·Oncology Letters·Yuying WuXinhua Zhang

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