Analysis of KERA in four families with cornea plana identifies two novel mutations

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064165:_____/18:10363857

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Analysis of KERA in four families with cornea plana identifies two novel mutations

Popis výsledku v původním jazyce

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&gt;T; p.(Pro70Leu) and a novel splice site mutation c.887-1G&gt;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&gt;T; p.(Arg279*) in a homozygous state. Homozygous mutations c.740A&gt;G; p.(Asn247Ser) and c.674C&gt;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&gt;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.

Název v anglickém jazyce

Analysis of KERA in four families with cornea plana identifies two novel mutations

Popis výsledku anglicky

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&gt;T; p.(Pro70Leu) and a novel splice site mutation c.887-1G&gt;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&gt;T; p.(Arg279*) in a homozygous state. Homozygous mutations c.740A&gt;G; p.(Asn247Ser) and c.674C&gt;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&gt;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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30207 - Ophthalmology

Projekt

<a href="/cs/project/LM2015091" target="_blank" >LM2015091: Národní centrum lékařské genomiky</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2018

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Acta Ophthalmologica

ISSN

1755-375X

e-ISSN

—

Svazek periodika

96

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

DK - Dánské království

Počet stran výsledku

5

Strana od-do

"e87"-"e91"

Kód UT WoS článku

000423066600012

EID výsledku v databázi Scopus

2-s2.0-85021780772