SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11310%2F12%3A10104955" target="_blank" >RIV/00216208:11310/12:10104955 - isvavai.cz</a>
Alternative codes found
RIV/61989592:15110/12:33140406 RIV/00216208:11110/12:11607 RIV/00064165:_____/12:11607
Result on the web
<a href="http://dx.doi.org/10.1016/j.gene.2011.10.011" target="_blank" >http://dx.doi.org/10.1016/j.gene.2011.10.011</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.gene.2011.10.011" target="_blank" >10.1016/j.gene.2011.10.011</a>

Result language
angličtina
Original language name
SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis
Original language description
The aim of the study was to analyze frequency of SHOX gene defects and selected dysmorphic signs in patients of both idiopathic short stature (ISS) and Léri-Weill dyschondrosteosis (LWD), all derived from the Czech population. Overall, 98 subjects were analyzed in the study. Inclusion criteria were the presence of short stature (MINUS SIGN 2,0 SD), in combination with at least one of the selected dysmorphic signs for the ISS+ group; and the presence of Madelung deformity, without positive karyotyping for the LWD+ group. Each proband was analyzed by use of P018 MLPA kit, which covers SHOX and its regulatory sequences. Additionally, mutational analysis was done of the coding portions of the SHOX. Both extent and breakpoint localizations in the deletions/duplications found were quite variable. Some PAR1 rearrangements were detected, without obvious phenotypic association. In the ISS+ group, MLPA analysis detected four PAR1 deletions associated with a SHOX gene defect, PAR1 duplication wit
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Project
<a href="/en/project/NS10327" target="_blank" >NS10327: Complex genetic analysis of patients with mental retardation and dysmorphias - establisment of proper diagnostic procedure</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>S - Specificky vyzkum na vysokych skolach

Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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