SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries
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 Nort...
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayincilik
2024-03-01
|
| Series: | JCRPE |
| Subjects: | |
| Online Access: | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-40469 |
| _version_ | 1797265054489378816 |
|---|---|
| author | Priyanka Srivastava Ankita Tyagi Chitra Bamba Anu Kumari Harvinder Kaur Saurabh Seth Anupriya Kaur Inusha Panigrahi Devi Dayal Subhodip Pramanik Kausik Mandal |
| author_facet | Priyanka Srivastava Ankita Tyagi Chitra Bamba Anu Kumari Harvinder Kaur Saurabh Seth Anupriya Kaur Inusha Panigrahi Devi Dayal Subhodip Pramanik Kausik Mandal |
| author_sort | Priyanka Srivastava |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-25T00:38:42Z |
| format | Article |
| id | doaj.art-78dfc99c0caa4a6ab7d9874fce2b8107 |
| institution | Directory Open Access Journal |
| issn | 1308-5727 1308-5735 |
| language | English |
| last_indexed | 2024-04-25T00:38:42Z |
| publishDate | 2024-03-01 |
| publisher | Galenos Yayincilik |
| record_format | Article |
| series | JCRPE |
| spelling | doaj.art-78dfc99c0caa4a6ab7d9874fce2b81072024-03-12T12:28:17ZengGalenos YayincilikJCRPE1308-57271308-57352024-03-01161414910.4274/jcrpe.galenos.2023.2023-3-13JCRPE-40469SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian CountriesPriyanka Srivastava0Ankita Tyagi1Chitra Bamba2Anu Kumari3Harvinder Kaur4Saurabh Seth5Anupriya Kaur6Inusha Panigrahi7Devi Dayal8Subhodip Pramanik9Kausik Mandal10Advanced Pediatrics Centre (APC), Postgraduate Institute of Medical Education & Research (PGIMER), Genetic Metabolic Unit, Chandigarh, IndiaAdvanced Pediatrics Centre (APC), Postgraduate Institute of Medical Education & Research (PGIMER), Genetic Metabolic Unit, Chandigarh, IndiaAdvanced Pediatrics Centre (APC), Postgraduate Institute of Medical Education & Research (PGIMER), Genetic Metabolic Unit, Chandigarh, IndiaAdvanced Pediatrics Centre (APC), Postgraduate Institute of Medical Education & Research (PGIMER), Genetic Metabolic Unit, Chandigarh, IndiaAdvanced Pediatrics Centre (APC), Postgraduate Institute of Medical Education & Research (PGIMER), Child Growth and Anthropology Unit, Chandigarh, IndiaAdvanced Pediatrics Centre (APC), Postgraduate Institute of Medical Education & Research (PGIMER), Genetic Metabolic Unit, Chandigarh, IndiaAdvanced Pediatrics Centre (APC), Postgraduate Institute of Medical Education & Research (PGIMER), Genetic Metabolic Unit, Chandigarh, IndiaAdvanced Pediatrics Centre (APC), Postgraduate Institute of Medical Education & Research (PGIMER), Genetic Metabolic Unit, Chandigarh, IndiaAdvanced Pediatrics Centre, Postgraduate Institute of Medical Education & Research (PGIMER), Pediatric Endocrinology Unit, Chandigarh, IndiaIPGMER and SSKM Hospital, Clinic of Endocrinology, Kolkata, IndiaSanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Department of Medical Genetics, Lucknow, IndiaINTRODUCTION: 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.https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-40469idiopathic short statureshoxmlpasanger sequencingmeta-analysisprevalence |
| spellingShingle | 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 JCRPE idiopathic short stature shox mlpa sanger sequencing meta-analysis prevalence |
| title | SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries |
| title_full | SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries |
| title_fullStr | SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries |
| title_full_unstemmed | SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries |
| title_short | SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries |
| title_sort | shox variations in idiopathic short stature in north india and a review of cases from asian countries |
| topic | idiopathic short stature shox mlpa sanger sequencing meta-analysis prevalence |
| url | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-40469 |
| work_keys_str_mv | AT priyankasrivastava shoxvariationsinidiopathicshortstatureinnorthindiaandareviewofcasesfromasiancountries AT ankitatyagi shoxvariationsinidiopathicshortstatureinnorthindiaandareviewofcasesfromasiancountries AT chitrabamba shoxvariationsinidiopathicshortstatureinnorthindiaandareviewofcasesfromasiancountries AT anukumari shoxvariationsinidiopathicshortstatureinnorthindiaandareviewofcasesfromasiancountries AT harvinderkaur shoxvariationsinidiopathicshortstatureinnorthindiaandareviewofcasesfromasiancountries AT saurabhseth shoxvariationsinidiopathicshortstatureinnorthindiaandareviewofcasesfromasiancountries AT anupriyakaur shoxvariationsinidiopathicshortstatureinnorthindiaandareviewofcasesfromasiancountries AT inushapanigrahi shoxvariationsinidiopathicshortstatureinnorthindiaandareviewofcasesfromasiancountries AT devidayal shoxvariationsinidiopathicshortstatureinnorthindiaandareviewofcasesfromasiancountries AT subhodippramanik shoxvariationsinidiopathicshortstatureinnorthindiaandareviewofcasesfromasiancountries AT kausikmandal shoxvariationsinidiopathicshortstatureinnorthindiaandareviewofcasesfromasiancountries |