Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome

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dc.contributor.authorKaraca, Ender
dc.contributor.authorBüyükkaya, Ramazan
dc.contributor.authorPehlivan, Davut
dc.contributor.authorCharng, Wu-Lin
dc.contributor.authorYaykaşlı, Kürşat Oğuz
dc.contributor.authorBayram, Yavuz
dc.contributor.authorLupski, James R.
dc.date.accessioned2020-04-30T23:46:58Z
dc.date.available2020-04-30T23:46:58Z
dc.date.issued2015
dc.departmentDÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.descriptionErdin, Serkan/0000-0001-6587-2625; Yaykasli, Kursat/0000-0001-7550-6370; Yaykasli, Emine/0000-0001-6471-0106; Gambin, Tomasz/0000-0002-0941-4571en_US
dc.descriptionWOS: 000353281300033en_US
dc.descriptionPubMed: 25322266en_US
dc.description.abstractContext: Pituitary stalk interruption syndrome (PSIS) is a rare, congenital anomaly of the pituitary gland characterized by pituitary gland insufficiency, thin or discontinuous pituitary stalk, anterior pituitary hypoplasia, and ectopic positioning of the posterior pituitary gland (neurohypophysis). The clinical presentation of patients with PSIS varies from isolated growth hormone (GH) deficiency to combined pituitary insufficiency and accompanying extrapituitary findings. Mutations in HESX1, LHX4, OTX2, SOX3, and PROKR2 have been associated with PSIS in less than 5% of cases; thus, the underlying genetic etiology for the vast majority of cases remains to be determined. Objective: We applied whole-exome sequencing (WES) to a consanguineous family with two affected siblings who have pituitary gland insufficiency and radiographic findings of hypoplastic (thin) pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pitiutary stalk-characteristic clinical diagnostic findings of PSIS. Design and Participants: WES was applied to two affected and one unaffected siblings. Results: WES of two affected and one unaffected sibling revealed a unique homozygous missense mutation in GPR161, which encodes the orphan G protein-coupled receptor 161, a protein responsible for transducing extracellular signals across the plasma membrane into the cell. Conclusion: Mutations of GPR161 may be implicated as a potential novel cause of PSIS.en_US
dc.description.sponsorshipUS National Human Genome Research Institute (NHGRI)/National Heart Lung and Blood Institute (NHLBI) [U54HG006542]en_US
dc.description.sponsorshipThis work was supported by the US National Human Genome Research Institute (NHGRI)/National Heart Lung and Blood Institute (NHLBI) Grant No. U54HG006542 to the Baylor-Hopkins Center for Mendelian Genomics.en_US
dc.identifier.doi10.1210/jc.2014-1984en_US
dc.identifier.endpageE147en_US
dc.identifier.issn0021-972X
dc.identifier.issn1945-7197
dc.identifier.issue1en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpageE140en_US
dc.identifier.urihttps://doi.org/10.1210/jc.2014-1984
dc.identifier.urihttps://hdl.handle.net/20.500.12684/5402
dc.identifier.volume100en_US
dc.identifier.wosWOS:000353281300033en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherEndocrine Socen_US
dc.relation.ispartofJournal Of Clinical Endocrinology & Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleWhole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndromeen_US
dc.typeArticleen_US

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