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Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.

Investigative ophthalmology & visual science - 18 Dec 2014

Jiang Dan, Li Jiali, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Sun Wenmin, Guo Xiangming, Zhang Qingjiong

Abstract excerpt

PURPOSE: To evaluate variants in the LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 genes in 298 unrelated patients with early-onset high myopia (eoHM). METHODS: Genomic DNA from 298 patients with eoHM was analyzed by whole exome sequencing. Variants in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 genes were selected and analyzed with bioinformatics. Potential candidate variants were confirmed by Sanger...

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Identifiers

PMID: 25525168
DOI: 10.1167/iovs.14-14850

Genes

CTSH
LRPAP1
SCO2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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