Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes

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dc.contributor.authorBertko, Eleonore
dc.contributor.authorKlammt, Juergen
dc.contributor.authorDusatkova, Petra
dc.contributor.authorBahceci, Mithat
dc.contributor.authorGonc, Nazli
dc.contributor.authorten Have, Louise
dc.contributor.authorKandemir, Nurgun
dc.date.accessioned2024-04-24T16:24:03Z
dc.date.available2024-04-24T16:24:03Z
dc.date.issued2017
dc.departmentDicle Üniversitesien_US
dc.description.abstractPituitary development depends on a complex cascade of interacting transcription factors and signaling molecules. Lesions in this cascade lead to isolated or combined pituitary hormone deficiency (CPHD). The aim of this study was to identify copy number variants (CNVs) in genes known to cause CPHD and to determine their structure. We analyzed 70 CPHD patients from 64 families. Deletions were found in three Turkish families and one family from northern Iraq. In one family we identified a 4.96 kb deletion that comprises the first two exons of POU1F1. In three families a homozygous 15.9 kb deletion including complete PROP1 was discovered. Breakpoints map within highly homologous AluY sequences. Haplotype analysis revealed a shared haplotype of 350 kb among PROP1 deletion carriers. For the first time we were able to assign the boundaries of a previously reported PROP1 deletion. This gross deletion shows strong evidence to originate from a common ancestor in patients with Kurdish descent. No CNVs within LHX3, LHX4, HESX1, GH1 and GHRHR were found. Our data prove multiplex ligation-dependent probe amplification to be a valuable tool for the detection of CNVs as cause of pituitary insufficiencies and should be considered as an analytical method particularly in Kurdish patients.en_US
dc.description.sponsorshipNovo Nordisk; Ferring; Sandoz; Lilly and Merck Serono; Eli Lilly; Ministry of Health of the Czech Republic [16-31211A]; project for conceptual development of research organization (Ministry of Health, the Czech Republic) [00064203/6001]en_US
dc.description.sponsorshipRP has received lecture fees by Novo Nordisk, Ferring, Sandoz, Lilly and Merck Serono. PD has received previously grant support from Eli Lilly. Haplotype analyses were supported by Ministry of Health of the Czech Republic (16-31211A) and by a project for conceptual development of research organization (00064203/6001; Ministry of Health, the Czech Republic). We would like to thank all the patients and their families who participated in this study. We also thank Guelseren Schimmelpfennig for her contribution during preparation of the manuscript.en_US
dc.identifier.doi10.1038/jhg.2017.34
dc.identifier.endpage762en_US
dc.identifier.issn1434-5161
dc.identifier.issn1435-232X
dc.identifier.issue8en_US
dc.identifier.pmid28356564
dc.identifier.scopus2-s2.0-85029311095
dc.identifier.scopusqualityQ1
dc.identifier.startpage755en_US
dc.identifier.urihttps://doi.org/10.1038/jhg.2017.34
dc.identifier.urihttps://hdl.handle.net/11468/16439
dc.identifier.volume62en_US
dc.identifier.wosWOS:000406281300005
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherNature Publishing Groupen_US
dc.relation.ispartofJournal of Human Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject[No Keyword]en_US
dc.titleCombined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genesen_US
dc.titleCombined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes
dc.typeArticleen_US

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