Objective: Short stature homeobox () haploinsufficiency underlies idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis. The worldwide prevalence of variations in ISS varies from 2.5% to 15.0%. The aim of this study was to assess the implication of variation in ISS in North Indians and compare this with other cases of variations from Asian population.
Methods: gene analysis was carried out by multiplex ligation-dependent probe amplification followed by Sanger sequencing in 54 patients with variable phenotypes. Comparison with other reports in a meta-analysis comprising the current study and 11 previous studies (n=979) was performed.
Results: analysis resulted in 12.9% positivity (7.4% deletions and 5.5% duplications). association was seen significantly related to gender, with predominance in females (p=0.047). Short arms and forearms were the only significantly associated trait seen in 51.9% of children. The overall prevalence of variation was 15.2% in Asians with ISS. No significant difference was found in geographical region-specific analysis.
Conclusion: This study summarises findings from the last decade and provides an updated picture of the prevalence of variations in Asians, emphasizing their potential as therapeutic targets in ISS patients. Further high quality, large investigations including functional validation is warranted to validate this association.
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| http://dx.doi.org/10.4274/jcrpe.galenos.2023.2023-3-13 | DOI Listing |
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