Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F15%3A10294887" target="_blank" >RIV/00216208:11110/15:10294887 - isvavai.cz</a>

Result on the web

<a href="http://dx.doi.org/10.1167/iovs.14-15792" target="_blank" >http://dx.doi.org/10.1167/iovs.14-15792</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1167/iovs.14-15792" target="_blank" >10.1167/iovs.14-15792</a>

Result language

angličtina

Original language name

Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

Original language description

PURPOSE. Brittle cornea syndrome 1 (BCS1) is a rare recessive condition characterized by extreme thinning of the cornea and sclera, caused by mutations in ZNF469. Keratoconus is a relatively common disease characterized by progressive thinning and ectasia of the cornea. The etiology of keratoconus is complex and not yet understood, but rare ZNF469 variants have recently been associated with disease. We investigated the phenotype of BCS1 carriers with known pathogenic ZNF469 mutations, and recruited families in which aggregation of keratoconus was observed to establish if rare variants in ZNF469 segregated with disease. METHODS. Patients and family members were recruited and underwent comprehensive anterior segment examination, including corneal topography. Blood samples were donated and genomic DNA was extracted. The coding sequence and splice sites of ZNF469 were PCR amplified and Sanger sequenced. RESULTS. Four carriers of three BCS1-associated ZNF469 loss-of-function mutations (p.[G

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FF - ENT (ie. ear, nose, throat), ophthalmology, dentistry

OECD FORD branch

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Project

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Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2015

Confidentiality

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

Name of the periodical

Investigative Ophthalmology and Visual Science

ISSN

0146-0404

e-ISSN

—

Volume of the periodical

56

Issue of the periodical within the volume

1

Country of publishing house

US - UNITED STATES

Number of pages

9

Pages from-to

578-586

UT code for WoS article

000351519800065

EID of the result in the Scopus database

2-s2.0-84921883947