Ontology highlight
ABSTRACT:
SUBMITTER: Aldahmesh MA
PROVIDER: S-EPMC3738831 | biostudies-literature | 2013 Aug
REPOSITORIES: biostudies-literature
Aldahmesh Mohammed A MA Khan Arif O AO Alkuraya Hisham H Adly Nouran N Anazi Shamsa S Al-Saleh Ahmed A AA Mohamed Jawahir Y JY Hijazi Hadia H Prabakaran Sarita S Tacke Marlene M Al-Khrashi Abdullah A Hashem Mais M Reinheckel Thomas T Assiri Abdullah A Alkuraya Fowzan S FS
American journal of human genetics 20130703 2
Myopia is an extremely common eye disorder but the pathogenesis of its isolated form, which accounts for the overwhelming majority of cases, remains poorly understood. There is strong evidence for genetic predisposition to myopia, but determining myopia genetic risk factors has been difficult to achieve. We have identified Mendelian forms of myopia in four consanguineous families and implemented exome/autozygome analysis to identify homozygous truncating variants in LRPAP1 and CTSH as the likely ...[more]