{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T01:46:27Z","timestamp":1776217587327,"version":"3.50.1"},"reference-count":47,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T00:00:00Z","timestamp":1694390400000},"content-version":"vor","delay-in-days":10,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001807","name":"S\u00e3o Paulo Research Foundation","doi-asserted-by":"publisher","award":["2019\/16092-8"],"award-info":[{"award-number":["2019\/16092-8"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"National Council for Scientific and Technological Development","doi-asserted-by":"publisher","award":["303294\/2020-5"],"award-info":[{"award-number":["303294\/2020-5"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Coordination of Superior Level Staff Improvement"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Our study aimed to assess the impact of genetic modifiers on the significant variation in phenotype that is observed in individuals with SHOX deficiency, which is the most prevalent monogenic cause of short stature.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design and methods<\/jats:title>\n                    <jats:p>We performed a genetic analysis in 98 individuals from 48 families with SHOX deficiency with a target panel designed to capture the entire SHOX genomic region and 114 other genes that modulate growth and\/or SHOX action. We prioritized rare potentially deleterious variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>We did not identify potential deleterious variants in the promoter or intronic regions of the SHOX genomic locus. In contrast, we found eight heterozygous variants in 11 individuals from nine families in genes with a potential role as genetic modifiers. In addition to a previously described likely pathogenic (LP) variant in CYP26C1 observed in two families, we identified LP variants in PTHLH and ACAN, and variants of uncertain significance in NPR2, RUNX2, and TP53 in more affected individuals from families with SHOX deficiency. Families with a SHOX alteration restricted to the regulatory region had a higher prevalence of a second likely pathogenic variant (27%) than families with an alteration compromising the SHOX coding region (2.9%, P = .04).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>In conclusion, variants in genes related to the growth plate have a potential role as genetic modifiers of the phenotype in individuals with SHOX deficiency. In individuals with SHOX alterations restricted to the regulatory region, a second alteration could be critical to determine the penetrance and expression of the phenotype.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ejendo\/lvad128","type":"journal-article","created":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T09:51:28Z","timestamp":1694166688000},"page":"387-395","source":"Crossref","is-referenced-by-count":3,"title":["Identification of a second genetic alteration in patients with\n                    <i>SHOX<\/i>\n                    deficiency individuals: a potential explanation for phenotype variability"],"prefix":"10.1093","volume":"189","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6611-3364","authenticated-orcid":false,"given":"Naiara C B","family":"Dantas","sequence":"first","affiliation":[{"name":"Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM\/25, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de Sao Paulo , 01246-903 Sao Paulo, SP ,","place":["Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana F A","family":"Funari","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM\/42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de Sao Paulo , 05403-900 Sao Paulo, SP ,","place":["Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio M","family":"Ler\u00e1rio","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology, Metabolism and Diabetes, University of Michigan , Ann Arbor, MI 48105 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalia L M","family":"Andrade","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM\/25, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de Sao Paulo , 01246-903 Sao Paulo, SP ,","place":["Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ra\u00edssa C","family":"Rezende","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM\/25, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de Sao Paulo , 01246-903 Sao Paulo, SP ,","place":["Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurana P","family":"Cellin","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM\/25, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de Sao Paulo , 01246-903 Sao Paulo, SP ,","place":["Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cr\u00e9sio","family":"Alves","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Unit, Hospital Universitario Prof. Edgard Santos, Faculdade de Medicina, Universidade Federal da Bahia , 40026-010 Salvador, BA ,","place":["Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lindiane G","family":"Crisostomo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Centro Universit\u00e1rio Sao Camilo , 04263-200 Sao Paulo SP ,","place":["Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivo J P","family":"Arnhold","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM\/42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de Sao Paulo , 05403-900 Sao Paulo, SP ,","place":["Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Berenice","family":"Mendonca","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM\/42, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de Sao Paulo , 05403-900 Sao Paulo, SP ,","place":["Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata C","family":"Scalco","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM\/25, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de Sao Paulo , 01246-903 Sao Paulo, SP ,","place":["Brazil"]},{"name":"Disciplina de Endocrinologia, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo , 01221-020 Sao Paulo SP 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