A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F16%3A00090087" target="_blank" >RIV/00216224:14110/16:00090087 - isvavai.cz</a>
Alternative codes found
RIV/65269705:_____/16:00066861
Result on the web
<a href="http://dx.doi.org/10.4274/jcrpe.3021" target="_blank" >http://dx.doi.org/10.4274/jcrpe.3021</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.4274/jcrpe.3021" target="_blank" >10.4274/jcrpe.3021</a>
Alternative languages
Result language
angličtina
Original language name
A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report
Original language description
Wolfram-like syndrome (WFSL) is a rare autosomal dominant disease characterised by congenital progressive hearing loss, diabetes mellitus, and optic atrophy. The patient was a boy with the juvenile form of diabetes mellitus and findings which clinically matched the symptoms of Wolfram syndrome. At the age of 3 1/4 years, diabetes mellitus was diagnosed in this boy who also had severe psychomotor retardation, failure to thrive, a dysmorphic face with Peters anomaly type 3 (i.e. posterior central defect with stromal opacity of the cornea, adhering stripes of the iris, and cataract with corneolenticular adhesion), congenital glaucoma, megalocornea, severe hearing impairment, a one-sided deformity of the auricle with atresia of the bony and soft external auditory canal, non-differentiable eardrum, missing os incus, hypothyreosis, and nephrocalcinosis. Molecular-genetic examinations revealed a de novo mutation p.(Glu809Lys) in the WFS1 gene. No mutations were detected in the biological parents.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FB - Endocrinology, diabetology, metabolism, nutrition
OECD FORD branch
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Result continuities
Project
<a href="/en/project/NT14574" target="_blank" >NT14574: New approaches in molecular diagnostics of neuromuscular diseases</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Clinical Research in Pediatric Endocrinology
ISSN
1308-5727
e-ISSN
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Volume of the periodical
8
Issue of the periodical within the volume
4
Country of publishing house
TR - TURKEY
Number of pages
2
Pages from-to
482-483
UT code for WoS article
000393040300017
EID of the result in the Scopus database
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