20.500.12556/RUL-136293 Detection of del/dup inside SHOX/PAR1 region in children and young adults with idiopathic short stature 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. idiopathic short stature Sanger sequencing children and young adults height short stature SHOX MLPA idiopatska nizka rast Sangerjevo zaporedje otroci in mladostniki true false true Angleški jezik Slovenski jezik Članek v reviji 2022-04-22 10:15:26 2022-04-22 10:15:28 2022-09-15 04:13:42 0000-00-00 00:00:00 2021 0 0 7 str. iss. 10, art. 1546 Vol. 12 2021 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.4 2073-4425 10.3390/genes12101546 79106563 genes-12-01546.pdf genes-12-01546.pdf 1 84A93DEA925EC40619BC1232503B8FFA c6b3222710867e2eddc4a66c0c3db7c8f0bc19c258d040dbabdd5e7d8c1392e6 9f88903c-c214-11ec-8aca-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=155852 https://www.mdpi.com/2073-4425/12/10/1546 1 4cce7e40-c214-11ec-8aca-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=155851 Medicinska fakulteta 0 0 0