SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries

Yıl: 2024 Cilt: 16 Sayı: 1 Sayfa Aralığı: 41 - 49 Metin Dili: İngilizce DOI: 10.4274/jcrpe.galenos.2023.2023-3-13 İndeks Tarihi: 11-06-2024

SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries

Öz:
Objective: 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. 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.
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APA Srivastava P, Tyagi A, Bhardwaj C, Kumari A, Kaur H, Seth S, Kaur A, Panigrahi I, Dayal D, PRAMANİK S, Mandal K (2024). SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries. , 41 - 49. 10.4274/jcrpe.galenos.2023.2023-3-13
Chicago Srivastava Priyanka,Tyagi Ankita,Bhardwaj Chitra,Kumari Anu,Kaur Harvinder,Seth Saurabh,Kaur Anupriya,Panigrahi Inusha,Dayal Devi,PRAMANİK Subhodip,Mandal Kausik SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries. (2024): 41 - 49. 10.4274/jcrpe.galenos.2023.2023-3-13
MLA Srivastava Priyanka,Tyagi Ankita,Bhardwaj Chitra,Kumari Anu,Kaur Harvinder,Seth Saurabh,Kaur Anupriya,Panigrahi Inusha,Dayal Devi,PRAMANİK Subhodip,Mandal Kausik SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries. , 2024, ss.41 - 49. 10.4274/jcrpe.galenos.2023.2023-3-13
AMA Srivastava P,Tyagi A,Bhardwaj C,Kumari A,Kaur H,Seth S,Kaur A,Panigrahi I,Dayal D,PRAMANİK S,Mandal K SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries. . 2024; 41 - 49. 10.4274/jcrpe.galenos.2023.2023-3-13
Vancouver Srivastava P,Tyagi A,Bhardwaj C,Kumari A,Kaur H,Seth S,Kaur A,Panigrahi I,Dayal D,PRAMANİK S,Mandal K SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries. . 2024; 41 - 49. 10.4274/jcrpe.galenos.2023.2023-3-13
IEEE Srivastava P,Tyagi A,Bhardwaj C,Kumari A,Kaur H,Seth S,Kaur A,Panigrahi I,Dayal D,PRAMANİK S,Mandal K "SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries." , ss.41 - 49, 2024. 10.4274/jcrpe.galenos.2023.2023-3-13
ISNAD Srivastava, Priyanka vd. "SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries". (2024), 41-49. https://doi.org/10.4274/jcrpe.galenos.2023.2023-3-13
APA Srivastava P, Tyagi A, Bhardwaj C, Kumari A, Kaur H, Seth S, Kaur A, Panigrahi I, Dayal D, PRAMANİK S, Mandal K (2024). SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries. Journal of Clinical Research in Pediatric Endocrinology, 16(1), 41 - 49. 10.4274/jcrpe.galenos.2023.2023-3-13
Chicago Srivastava Priyanka,Tyagi Ankita,Bhardwaj Chitra,Kumari Anu,Kaur Harvinder,Seth Saurabh,Kaur Anupriya,Panigrahi Inusha,Dayal Devi,PRAMANİK Subhodip,Mandal Kausik SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries. Journal of Clinical Research in Pediatric Endocrinology 16, no.1 (2024): 41 - 49. 10.4274/jcrpe.galenos.2023.2023-3-13
MLA Srivastava Priyanka,Tyagi Ankita,Bhardwaj Chitra,Kumari Anu,Kaur Harvinder,Seth Saurabh,Kaur Anupriya,Panigrahi Inusha,Dayal Devi,PRAMANİK Subhodip,Mandal Kausik SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries. Journal of Clinical Research in Pediatric Endocrinology, vol.16, no.1, 2024, ss.41 - 49. 10.4274/jcrpe.galenos.2023.2023-3-13
AMA Srivastava P,Tyagi A,Bhardwaj C,Kumari A,Kaur H,Seth S,Kaur A,Panigrahi I,Dayal D,PRAMANİK S,Mandal K SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries. Journal of Clinical Research in Pediatric Endocrinology. 2024; 16(1): 41 - 49. 10.4274/jcrpe.galenos.2023.2023-3-13
Vancouver Srivastava P,Tyagi A,Bhardwaj C,Kumari A,Kaur H,Seth S,Kaur A,Panigrahi I,Dayal D,PRAMANİK S,Mandal K SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries. Journal of Clinical Research in Pediatric Endocrinology. 2024; 16(1): 41 - 49. 10.4274/jcrpe.galenos.2023.2023-3-13
IEEE Srivastava P,Tyagi A,Bhardwaj C,Kumari A,Kaur H,Seth S,Kaur A,Panigrahi I,Dayal D,PRAMANİK S,Mandal K "SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries." Journal of Clinical Research in Pediatric Endocrinology, 16, ss.41 - 49, 2024. 10.4274/jcrpe.galenos.2023.2023-3-13
ISNAD Srivastava, Priyanka vd. "SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries". Journal of Clinical Research in Pediatric Endocrinology 16/1 (2024), 41-49. https://doi.org/10.4274/jcrpe.galenos.2023.2023-3-13