Analysis of KERA in four families with cornea plana identifies two novel mutations
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F18%3A10363857" target="_blank" >RIV/00216208:11110/18:10363857 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/18:10363857
Result on the web
<a href="http://dx.doi.org/10.1111/aos.13484" target="_blank" >http://dx.doi.org/10.1111/aos.13484</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/aos.13484" target="_blank" >10.1111/aos.13484</a>
Alternative languages
Result language
angličtina
Original language name
Analysis of KERA in four families with cornea plana identifies two novel mutations
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30207 - Ophthalmology
Result continuities
Project
<a href="/en/project/LM2015091" target="_blank" >LM2015091: National Center for Medical Genomic</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Acta Ophthalmologica
ISSN
1755-375X
e-ISSN
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Volume of the periodical
96
Issue of the periodical within the volume
1
Country of publishing house
DK - DENMARK
Number of pages
5
Pages from-to
"e87"-"e91"
UT code for WoS article
000423066600012
EID of the result in the Scopus database
2-s2.0-85021780772