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Detection of del/dup inside SHOX/PAR1 region in children and young adults with idiopathic short stature
ID Stritar, Jera (Author), ID Stavber, Lana (Author), ID Ficko, Maja (Author), ID Kotnik, Primož (Author), ID Battelino, Tadej (Author), ID Trebušak Podkrajšek, Katarina (Author), ID Hovnik, Tinka (Author)

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Abstract
Short stature is a common growth disorder defined as a body height two standard deviations (SD) or more below the mean for a given age, gender, and population. A large part of the cases remains unexplained and is referred to as having idiopathic short stature (ISS). One of the leading genetic causes of short stature is variants of short stature homeobox-containing gene (SHOX) and is considered to be responsible for 2–15% of ISS. We aimed to analyse the regulatory and coding region of SHOX in Slovenian children and young adults with ISS and to investigate the pathogenicity of detected variants. Our cohort included 75 children and young adults with ISS. Multiplex ligation-dependent probe amplification (MLPA) was performed in all participants for the detection of larger copy number variations (CNVs). Sanger sequencing was undertaken for the detection of point variants, small deletions, and insertions. A total of one deletion and two duplications were discovered using the MLPA technique. Only one of these four variants was identified as disease-causing and occurred in one individual, which represents 1.3% of the cohort. With Sanger sequencing, two variants were discovered, but none of them appeared to have a pathogenic effect on height. According to the results, in the Slovenian population of children and young adults with ISS, SHOX deficiency is less frequent than expected considering existing data from other populations.

Language:English
Keywords:idiopathic short stature, Sanger sequencing, children and young adults, height, short stature, SHOX, MLPA
Work type:Article
Typology:1.01 - Original Scientific Article
Organization:MF - Faculty of Medicine
Publication status:Published
Publication version:Version of Record
Year:2021
Number of pages:7 str.
Numbering:Vol. 12, iss. 10, art. 1546
PID:20.500.12556/RUL-136293 This link opens in a new window
UDC:616.4
ISSN on article:2073-4425
DOI:10.3390/genes12101546 This link opens in a new window
COBISS.SI-ID:79106563 This link opens in a new window
Publication date in RUL:22.04.2022
Views:491
Downloads:97
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Record is a part of a journal

Title:Genes
Shortened title:Genes
Publisher:Multidisciplinary Digital Publishing Institute (MDPI)
ISSN:2073-4425
COBISS.SI-ID:523100185 This link opens in a new window

Licences

License:CC BY 4.0, Creative Commons Attribution 4.0 International
Link:http://creativecommons.org/licenses/by/4.0/
Description:This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
Licensing start date:01.10.2021

Secondary language

Language:Slovenian
Keywords:idiopatska nizka rast, Sangerjevo zaporedje, otroci in mladostniki

Projects

Funder:ARRS - Slovenian Research Agency
Project number:P3-0343
Name:Etiologija, zgodnje odkrivanje in zdravljenje bolezni pri otrocih in mladostnikih

Funder:Other - Other funder or multiple funders
Funding programme:Tertiary research
Project number:TP 20170122

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