Analysis of KERA in four families with cornea plana identifies two novel mutations
Jazyk angličtina Země Anglie, Velká Británie Médium print-electronic
Typ dokumentu kazuistiky, časopisecké články
PubMed
28677912
DOI
10.1111/aos.13484
Knihovny.cz E-zdroje
- Klíčová slova
- KERA, cornea plana, novel mutation, phenotype,
- MeSH
- abnormality očí genetika metabolismus patologie MeSH
- DNA genetika MeSH
- lidé MeSH
- missense mutace * MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mutační analýza DNA MeSH
- nemoci rohovky vrozené diagnóza MeSH
- optická koherentní tomografie MeSH
- předškolní dítě MeSH
- proteoglykany genetika metabolismus MeSH
- rodokmen MeSH
- rohovka abnormality metabolismus MeSH
- senioři MeSH
- sourozenci * MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Geografické názvy
- Turecko MeSH
- Názvy látek
- DNA MeSH
- KERA protein, human MeSH Prohlížeč
- proteoglykany MeSH
PURPOSE: To identify the molecular genetic cause in four families of various ethnic backgrounds with cornea plana. METHODS: Detailed ophthalmological examination and direct sequencing of the KERA coding region in five patients of Czech and Turkish origin and their available family members. RESULTS: Compound heterozygosity for a novel missense mutation c.209C>T; p.(Pro70Leu) and a novel splice site mutation c.887-1G>A in KERA were detected in two affected siblings of Czech origin. In silico analysis supported the pathogenicity of both variants. The second proband of Czech origin harboured c.835C>T; p.(Arg279*) in a homozygous state. Homozygous mutations c.740A>G; p.(Asn247Ser) and c.674C>T; p.(Ile225Thr) were identified in the Turkish probands, both born out of consanguineous marriages. Observed ocular phenotypes were typical of cornea plana with the exception of one Czech patient who also had marked thinning and protrusion in the superior part of the left cornea (mean keratometry 47.2 D). No corneal endothelial cell pathology was found by specular microscopy in seven eyes, in three eyes visualization of the posterior corneal surface was unsuccessful. CONCLUSION: KERA mutation c.740A>G has been identified to date in three different populations, which makes it the most frequently occurring mutation in patients with cornea plana. Marked corneal thinning and ectasia are a very rare finding in this disorder and longitudinal follow-up needs to be performed to determine its potential progressive nature.
Center for Medical Genetics Ghent University Hospital and Ghent University Ghent Belgium
Department of Ophthalmology Ghent University Hospital Ghent Belgium
Department of Ophthalmology Queen Fabiola Children's University Hospital Brussels Belgium
Citace poskytuje Crossref.org
GENBANK
NM_007035.3, NG_021223.1
