Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F18%3A10380121" target="_blank" >RIV/00216208:11130/18:10380121 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11110/18:10380121 RIV/00064203:_____/18:10380121 RIV/00064165:_____/18:10380121

Výsledek na webu

<a href="https://doi.org/10.1186/s12886-018-0918-8" target="_blank" >https://doi.org/10.1186/s12886-018-0918-8</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1186/s12886-018-0918-8" target="_blank" >10.1186/s12886-018-0918-8</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

Popis výsledku v původním jazyce

Background: The purpose of this study was to identify the genetic cause and describe the clinical phenotype of Schnyder corneal dystrophy (SCD) in six unrelated probands. Methods: We identified two white Czech, two white British and two South Asian families with a clinical diagnosis of SCD. Ophthalmic assessment included spectral domain optical coherence tomography (SD-OCT) of one individual with advanced disease, and SD-OCT and confocal microscopy of a child with early stages of disease. UBIAD1 coding exons were amplified and Sanger sequenced in each proband. A fasting serum lipid profile was measured in three probands. Paternity testing was performed in one family. Results: A novel heterozygous c.527G&gt;A; p.(Gly176Glu) mutation in UBIAD1 was identified in one Czech proband. In the second Czech proband, aged 6 years when first examined, a previously described de novo heterozygous c.289G&gt;A; p.(Ala97Thr) mutation was found. Two probands of South Asian descent carried a known c.305G&gt;A; p.(Asn102Ser) mutation in the heterozygous state. Previously reported heterozygous c.361C&gt;T; p.(Leu121Phe) and c.308C&gt;T; p.(Thr103lle) mutations were found in two white British families. Although crystalline deposits were present in all probands the affected area was small in some individuals. Corneal arcus and stromal haze were the most prominent phenotypical feature in two probands. In the Czech probands, SD-OCT confirmed accumulation of reflective material in the anterior stroma. Crystalline deposits were visualized by confocal microscopy. Mild dyslipidemia was found in all three individuals tested. Conclusion: Although de novo occurrence of mutations in UBIAD1 is extremely rare, SCD should be considered in the differential diagnosis of bilateral corneal haze and/or crystal deposition, especially in children.

Název v anglickém jazyce

Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

Popis výsledku anglicky

Background: The purpose of this study was to identify the genetic cause and describe the clinical phenotype of Schnyder corneal dystrophy (SCD) in six unrelated probands. Methods: We identified two white Czech, two white British and two South Asian families with a clinical diagnosis of SCD. Ophthalmic assessment included spectral domain optical coherence tomography (SD-OCT) of one individual with advanced disease, and SD-OCT and confocal microscopy of a child with early stages of disease. UBIAD1 coding exons were amplified and Sanger sequenced in each proband. A fasting serum lipid profile was measured in three probands. Paternity testing was performed in one family. Results: A novel heterozygous c.527G&gt;A; p.(Gly176Glu) mutation in UBIAD1 was identified in one Czech proband. In the second Czech proband, aged 6 years when first examined, a previously described de novo heterozygous c.289G&gt;A; p.(Ala97Thr) mutation was found. Two probands of South Asian descent carried a known c.305G&gt;A; p.(Asn102Ser) mutation in the heterozygous state. Previously reported heterozygous c.361C&gt;T; p.(Leu121Phe) and c.308C&gt;T; p.(Thr103lle) mutations were found in two white British families. Although crystalline deposits were present in all probands the affected area was small in some individuals. Corneal arcus and stromal haze were the most prominent phenotypical feature in two probands. In the Czech probands, SD-OCT confirmed accumulation of reflective material in the anterior stroma. Crystalline deposits were visualized by confocal microscopy. Mild dyslipidemia was found in all three individuals tested. Conclusion: Although de novo occurrence of mutations in UBIAD1 is extremely rare, SCD should be considered in the differential diagnosis of bilateral corneal haze and/or crystal deposition, especially in children.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30207 - Ophthalmology

Projekt

<a href="/cs/project/EF16_013%2F0001634" target="_blank" >EF16_013/0001634: Národní centrum lékařské genomiky - modernizace infrastruktury a výzkum genetické variability populace</a><br>

Návaznosti

S - Specificky vyzkum na vysokych skolach<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

BMC Ophthalmology

ISSN

1471-2415

e-ISSN

—

Svazek periodika

18

Číslo periodika v rámci svazku

September

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

7

Strana od-do

—

Kód UT WoS článku

000444992000002

EID výsledku v databázi Scopus

2-s2.0-85053679034