Autosomal dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation.

This study suggests that P4HA2 mutations may lead to myopic axial elongation of eyeball as a consequence of quantitative and structural alterations of collagen. This is the first confirmatory study which associates a novel dominant missense variant in P4HA2 with myopia in Caucasian patients. Further studies in larger cohorts are advisable to fully clarify genotype-phenotype correlations.
PMID: 29364500 [PubMed - as supplied by publisher]

Source: Clinical Genetics - January 24, 2018 Category: Genetics & Stem Cells Authors: Napolitano F, Di Iorio V, Testa F, Tirozzi A, Reccia MG, Lombardi L, Farina O, Simonelli F, Gianfrancesco F, Di Iorio G, Melone MAB, Esposito T, Sampaolo S Tags: Clin Genet Source Type: research