J Clin Res Pediatr Endocrinol. 2024; 16(1): 41-49 | DOI: 10.4274/jcrpe.galenos.2023.2023-3-13
SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries
Priyanka Srivastava1, Ankita Tyagi1, Chitra Bamba1, Anu Kumari1, Harvinder Kaur2, Saurabh Seth1, Anupriya Kaur1, Inusha Panigrahi1, Devi Dayal3, Subhodip Pramanik4, Kausik Mandal51Advanced Pediatrics Centre (APC), Postgraduate Institute of Medical Education & Research (PGIMER), Genetic Metabolic Unit, Chandigarh, India
2Advanced Pediatrics Centre (APC), Postgraduate Institute of Medical Education & Research (PGIMER), Child Growth and Anthropology Unit, Chandigarh, India
3Advanced Pediatrics Centre, Postgraduate Institute of Medical Education & Research (PGIMER), Pediatric Endocrinology Unit, Chandigarh, India
4IPGMER and SSKM Hospital, Clinic of Endocrinology, Kolkata, India
5Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Department of Medical Genetics, Lucknow, India
INTRODUCTION: Short stature homeobox (SHOX) haploinsufficiency underlies idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis. The worldwide prevalence of SHOX variations in ISS varies from 2.5% to 15.0%. The aim of this study was to assess the implication of SHOX variation in ISS in North Indians and compare this with other cases of SHOX variations from Asian population.
METHODS: SHOX 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: SHOX analysis resulted in 12.9% positivity (7.4% deletions and 5.5% duplications). SHOX 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 SHOX variation was 15.2% in Asians with ISS. No significant difference was found in geographical region-specific analysis.
DISCUSSION AND CONCLUSION: This study summarises findings from the last decade and provides an updated picture of the prevalence of SHOX 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.
Keywords: Idiopathic short stature, SHOX, MLPA, Sanger sequencing, meta-analysis, prevalence
Priyanka Srivastava, Ankita Tyagi, Chitra Bamba, Anu Kumari, Harvinder Kaur, Saurabh Seth, Anupriya Kaur, Inusha Panigrahi, Devi Dayal, Subhodip Pramanik, Kausik Mandal. SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries. J Clin Res Pediatr Endocrinol. 2024; 16(1): 41-49
Corresponding Author: Priyanka Srivastava, India
Manuscript Language: English