Idioma:

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

Napolitano, F. ; Di Iorio, V. ; Testa, F. ; Tirozzi, A. ; Reccia, M.G. ; Lombardi, L. ; Farina, O. ; Simonelli, F. ; Gianfrancesco, F. ; Di Iorio, G. ; Melone, M.A.B. ; Esposito, T. ; Sampaolo, S.

Clinical genetics, 2018-05, Vol.93 (5), p.982-991 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

Texto completo disponível

Citações Citado por

Enviar para

Título:
Autosomal‐dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation
Autor: Napolitano, F. ; Di Iorio, V. ; Testa, F. ; Tirozzi, A. ; Reccia, M.G. ; Lombardi, L. ; Farina, O. ; Simonelli, F. ; Gianfrancesco, F. ; Di Iorio, G. ; Melone, M.A.B. ; Esposito, T. ; Sampaolo, S.
Assuntos: Adolescent ; Adult ; Cell lines ; Child ; China - epidemiology ; Collagen ; Collagen - genetics ; Collagen - metabolism ; collagen hydroxylation ; disease gene identification ; Exome - genetics ; Female ; Gene expression ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotypes ; genotype‐phenotype correlation ; Humans ; Hydroxylase ; Hydroxylation ; Hydroxylation - genetics ; Hydroxyproline ; Male ; Middle Aged ; mRNA ; Mutation ; Mutation, Missense - genetics ; Myopia ; Myopia - epidemiology ; Myopia - genetics ; Myopia - pathology ; P4HA2 gene ; Pedigree ; Phenotype ; Phenotypes ; Prolyl Hydroxylases - genetics ; whole‐exome sequencing ; Young Adult
É parte de: Clinical genetics, 2018-05, Vol.93 (5), p.982-991
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
Descrição: We recently described a complex multisystem syndrome in which mild‐moderate myopia segregated as an independent trait. A plethora of genes has been related to sporadic and familial myopia. More recently, in Chinese patients severe myopia (MYP25, OMIM:617238) has been linked to mutations in P4HA2 gene. Seven family members complaining of reduced distance vision especially at dusk underwent complete ophthalmological examination. Whole‐exome sequencing was performed to identify the gene responsible for myopia in the pedigree. Moderate myopia was diagnosed in the family which was associated to the novel missense variant c.1147A > G p.(Lys383Glu) in the prolyl 4‐hydroxylase,alpha‐polypeptide 2 (P4HA2) gene, which catalyzes the formation of 4‐hydroxyproline residues in the collagen strands. In vitro studies demonstrated P4HA2 mRNA and protein reduced expression level as well as decreased collagen hydroxylation and deposition in mutated fibroblast primary cultures compared to healthy cell lines. 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.
Editor: Oxford, UK: Blackwell Publishing Ltd
Idioma: Inglês

Links

View this record in MEDLINE/PubMed

Voltar para lista de resultados

Realização: Logos de Redes Sociais:

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

Napolitano, F. ; Di Iorio, V. ; Testa, F. ; Tirozzi, A. ; Reccia, M.G. ; Lombardi, L. ; Farina, O. ; Simonelli, F. ; Gianfrancesco, F. ; Di Iorio, G. ; Melone, M.A.B. ; Esposito, T. ; Sampaolo, S.

Oxford, UK: Blackwell Publishing Ltd

Buscando em bases de dados remotas. Favor aguardar.