{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T10:09:28Z","timestamp":1784714968814,"version":"3.55.0"},"reference-count":48,"publisher":"PeerJ","license":[{"start":{"date-parts":[[2020,11,17]],"date-time":"2020-11-17T00:00:00Z","timestamp":1605571200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Supported by Ministry of Health, Czech Republic\u2014conceptual development of research organization","award":["FNOl,0098892"],"award-info":[{"award-number":["FNOl,0098892"]}]},{"name":"Internal Grant Agency of Palacky University in Olomouc","award":["IGA_LF_2020_007"],"award-info":[{"award-number":["IGA_LF_2020_007"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:sec>\n               <jats:title>Background<\/jats:title>\n               <jats:p><jats:italic>SHOX<\/jats:italic> mutations have previously been described as causes of L\u00e9ri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), and idiopathic short stature. The loss of X chromosome\u2014Turner syndrome or mosaic 45,X\/46,XX or 46,XY\u2014also leads to the heterozygous loss of <jats:italic>SHOX<\/jats:italic> in patients with short stature only or with features similar to LWD. The aim of this study was to assess the efficacy of the targeted screening for <jats:italic>SHOX<\/jats:italic> variants, which involved different methods in the laboratory analysis of short stature. We determined the significance and positive predictive value of short stature for the detection of <jats:italic>SHOX<\/jats:italic> variants.<\/jats:p>\n            <\/jats:sec>\n            <jats:sec>\n               <jats:title>Methods<\/jats:title>\n               <jats:p>Targeted screening for variants in <jats:italic>SHOX<\/jats:italic> involving MLPA, sequencing, karyotyping and FISH was performed in the short stature cohort (<jats:italic>N<\/jats:italic>\u00a0=\u00a0174) and control cohort (<jats:italic>N<\/jats:italic>\u00a0=\u00a091). The significance of short stature and particular characteristics for the detection of <jats:italic>SHOX<\/jats:italic> variants was determined by Fisher\u2019s exact test, and the probability of <jats:italic>SHOX<\/jats:italic> mutation occurrence was calculated using a forward\/stepwise logistic regression model.<\/jats:p>\n            <\/jats:sec>\n            <jats:sec>\n               <jats:title>Results<\/jats:title>\n               <jats:p>In total, 27 and 15 variants influencing <jats:italic>SHOX<\/jats:italic> were detected in the short stature and control cohorts, respectively (<jats:italic>p<\/jats:italic>\u00a0&gt;\u00a00.01). Sex chromosome aberrations and pathogenic CNV resulting in diagnosis were detected in eight (4.6%) and five (2.9%) patients of the short stature group and three (3.3%) and one (1.1%) individuals of the control group. VUS variants were discovered in 14 (8.0%) and 11 (12.1%) individuals of the short stature and control groups, respectively. MLPA demonstrated the detection rate of 13.22%, and it can be used as a frontline method for detection of aberrations involving <jats:italic>SHOX<\/jats:italic>. However, only mosaicism of monosomy X with a higher frequency of monosomic cells could be reliably discovered by this method. Karyotyping and FISH can compensate for this limitation; their detection rates in short stature group were 3.55% and 13.46% (<jats:italic>N<\/jats:italic>\u00a0=\u00a052), respectively. FISH proved to be more effective than karyotyping in the study as it could reveal cryptic mosaics in some cases where karyotyping initially failed to detect such a clone. We suggest adding FISH on different tissue than peripheral blood to verify sex-chromosome constitution, especially in cases with karyotypes: 45,X; mosaic 45,X\/46,XX or 46,XY; 46,Xidic(Y) detected from blood; in children, where mosaic 45,X was detected prenatally but was not confirmed from peripheral blood. The correlation of short stature with the occurrence of <jats:italic>SHOX<\/jats:italic> mutations was insignificant and short stature demonstrates a low positive predictive value-15.5% as unique indicator for <jats:italic>SHOX<\/jats:italic> mutations. The typical skeletal signs of LWD, including Madelung deformity and disproportionate growth, positively correlate with the findings of pathogenic <jats:italic>SHOX<\/jats:italic> variants (<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.01) by Fisher\u2019s exact test but not with the findings of VUS variants in <jats:italic>SHOX<\/jats:italic> which are more prevalent in the individuals with idiopathic short stature or in the individuals with normal height.<\/jats:p>\n            <\/jats:sec>","DOI":"10.7717\/peerj.10236","type":"journal-article","created":{"date-parts":[[2020,11,17]],"date-time":"2020-11-17T08:47:31Z","timestamp":1605602851000},"page":"e10236","source":"Crossref","is-referenced-by-count":8,"title":["Short stature and <i>SHOX<\/i> (Short stature homeobox) variants\u2014efficacy of screening using various strategies"],"prefix":"10.7717","volume":"8","author":[{"given":"Pavlina","family":"Capkova","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, 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