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

Result code in 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>

Alternative codes found

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

Result on the web

<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>

Result language

angličtina

Original language name

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

Original language description

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.

Czech name

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Czech description

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Type

J_imp - 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

Project

<a href="/en/project/EF16_013%2F0001634" target="_blank" >EF16_013/0001634: National Center for Medical Genomic - modernization of infrastructure and research of genetic variation in the population</a><br>

Continuities

S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2018

Confidentiality

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

Name of the periodical

BMC Ophthalmology

ISSN

1471-2415

e-ISSN

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Volume of the periodical

18

Issue of the periodical within the volume

September

Country of publishing house

GB - UNITED KINGDOM

Number of pages

7

Pages from-to

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UT code for WoS article

000444992000002

EID of the result in the Scopus database

2-s2.0-85053679034