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This study aims to identify potential candidate genes associated with SLDP.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Whole-exome sequencing was conducted in 71 children with SLDP, most of whom presented with short stature. Rare coding variants were prioritized through comprehensive bioinformatics analyses and classified as high-impact or moderate-impact based on predicted functional effects. Candidate genes were selected based on the absence of human phenotype data, recurrence within the cohort, intolerance to mutation, and prior identification in genome-wide association studies. Burden tests compared the frequency of rare high-impact variants in these candidate genes between SLDP patients and the gnomAD v2.0 control group. Gene-phenotype associations were further explored using UK Biobank data.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Fourteen high-impact and 7 moderate-impact variants were identified in 19 candidate genes, suggesting a potential role in SLDP. Variants in 8 candidate genes (GPS1, INHBB, SP3, NAMPT, ARID3B, NASP, FNBP1, PRDM2) were significantly enriched in cases compared to controls in the burden test analysis. INHBB was additionally linked to delayed menarche in UK Biobank data. Furthermore, 3 pathogenic variants (CDK13, GDF5, ANRKD11) and 6 likely pathogenic variants (TYMP, DPF2, KMT2C, TP63, MC3R, GHSR) previously associated with growth or pubertal human disorders were identified.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>These findings suggest that SLDP involves both monogenic and polygenic mechanisms, with novel candidate genes contributing to its genetic basis. The association of INHBB with pubertal timing underscores its potential role in SLDP pathophysiology.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ejendo\/lvaf061","type":"journal-article","created":{"date-parts":[[2025,4,7]],"date-time":"2025-04-07T17:42:18Z","timestamp":1744047738000},"page":"481-490","source":"Crossref","is-referenced-by-count":1,"title":["Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty"],"prefix":"10.1093","volume":"192","author":[{"given":"Ra\u00edssa C","family":"Rezende","sequence":"first","affiliation":[{"name":"Unidade de Endocrinologia Genetica (LIM 25), Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo (USP) , S\u00e3o Paulo, SP 0124690 ,","place":["Brazil"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen","family":"He","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Pediatrics, Boston Children's 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