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The puberty-related gene pool in the human genome is considerably large though few have been described in CPP. Within those genes, the genomic imprinting features of the <jats:italic>MKRN3<\/jats:italic> and <jats:italic>DLK1<\/jats:italic> genes add additional complexity to the understanding of the pathologic pathways. This study aimed to investigate the molecular etiology in the CPP cohort.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Eighteen familial CPP cases were investigated by Sanger sequencing for five CPP-related genes; <jats:italic>DLK1<\/jats:italic>, <jats:italic>KISS1<\/jats:italic>, <jats:italic>KISS1R<\/jats:italic>, <jats:italic>MKRN3<\/jats:italic>, and <jats:italic>PROKR2<\/jats:italic>. Segregation analysis was performed in all patients with pathogenic variants. Using an ELISA test, the functional pathogenicity of novel variants was also investigated in conjunction with serum delta-like 1 homolog (DLK1) concentrations.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>In three probands<jats:bold>,<\/jats:bold> a known variant in the <jats:italic>MKRN3<\/jats:italic> gene (c.982C&gt;T\/p.(Arg328Cys)) and two novel variants in the <jats:italic>DLK1<\/jats:italic> gene (c.357C&gt;G\/p.(Tyr119Ter) and c.67+78C&gt;T) were identified. All three were inherited from the paternal allele. The individuals carrying the <jats:italic>DLK1<\/jats:italic> variants had low detectable DLK1 levels in their serum.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>The frequencies were 5.5% (1\/18) for <jats:italic>MKRN3<\/jats:italic> 11% (2\/18) for <jats:italic>DLK1<\/jats:italic>, and none for either <jats:italic>KISS1<\/jats:italic>, <jats:italic>KISS1R<\/jats:italic>, and <jats:italic>PROKR2<\/jats:italic>. Low serum DLK1 levels in affected individuals supported the relationship between here described novel <jats:italic>DLK1<\/jats:italic> gene variants with CPP. Nonsense nature of c.357C&gt;G\/p.(Tyr119Ter) and an alteration in the evolutionarily conserved nucleotide c.67+78C&gt;T suggested the disruptive nature of the variant's compatibility with CPP.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s40618-023-02300-3","type":"journal-article","created":{"date-parts":[[2024,2,17]],"date-time":"2024-02-17T05:02:11Z","timestamp":1708146131000},"page":"2041-2052","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Novel variants ensued genomic imprinting in familial central precocious puberty"],"prefix":"10.1007","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8777-3548","authenticated-orcid":false,"given":"V.","family":"Karaman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8842-1752","authenticated-orcid":false,"given":"E.","family":"Karakilic-Ozturan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6806-9678","authenticated-orcid":false,"given":"S.","family":"Poyrazoglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5279-0855","authenticated-orcid":false,"given":"M. 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