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Homozygous Loss-of-function Mutations in SOHLH1 in Patients With Nonsyndromic Hypergonadotropic Hypogonadism

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dc.contributor.authorBayram, Yavuz
dc.contributor.authorGulsuner, Suleyman
dc.contributor.authorABACI, Ayhan
dc.contributor.authorGulsuner, Hilal Unal
dc.contributor.authorAtay, Zeynep
dc.contributor.authorPierce, Sarah B.
dc.contributor.authorGambin, Tomasz
dc.contributor.authorLee, Ming
dc.contributor.authorTuran, Serap
dc.contributor.authorBober, Ece
dc.contributor.authorAtik, Mehmed M.
dc.contributor.authorWalsh, Tom
dc.contributor.authorKaraca, Ender
dc.contributor.authorPehlivan, Davut
dc.contributor.authorJhangiani, Shalini N.
dc.contributor.authorMuzny, Donna
dc.contributor.authorBereket, Abdullah
dc.contributor.authorBuyukgebiz, Atilla
dc.contributor.authorBoerwinkle, Eric
dc.contributor.authorGibbs, Richard A.
dc.contributor.authorKing, Mary-Claire
dc.contributor.authorLupski, James R.
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2019-10-05T14:51:22Z
dc.date.available2019-10-05T14:51:22Z
dc.date.issued2015-05-01
dc.description.abstractContext: Hypergonadotropic hypogonadism presents in females with delayed or arrested puberty, primary or secondary amenorrhea due to gonadal dysfunction, and is further characterized by elevated gonadotropins and low sex steroids. Chromosomal aberrations and various specific gene defects can lead to hypergonadotropic hypogonadism. Responsible genes include those with roles in gonadal development or maintenance, sex steroid synthesis, or end-organ resistance to gonadotropins. Identification of novel causative genes in this disorder will contribute to our understanding of the regulation of human reproductive function. Objectives: The aim of this study was to identify and report the gene responsible for autosomal-recessive hypergonadotropic hypogonadism in two unrelated families. Design and participants: Clinical evaluation and whole-exome sequencing were performed in two pairs of sisters with nonsyndromic hypergonadotropic hypogonadism from two unrelated families. Results: Exome sequencing analysis revealed two different truncating mutations in the same gene: SOHLH1 c.705delT (p.Pro235fs*4) and SOHLH1 c.27C>G (p.Tyr9stop). Both mutations were unique to the families and segregation was consistent with Mendelian expectations for an autosomal-recessive mode of inheritance. Conclusions: Sohlh1 was known from previous mouse studies to be a transcriptional regulator that functions in the maintenance and survival of primordial ovarian follicles, but loss-of-function mutations in human females have not been reported. Our results provide evidence that homozygous-truncating mutations in SOHLH1 cause female nonsyndromic hypergonadotropic hypogonadism.en
dc.identifier10.1159/000081235
dc.identifier.citationBayram Y., Gulsuner S., GÜRAN T., Abaci A., Yesil G., Gulsuner H. U. , Atay Z., Pierce S. B. , Gambin T., Lee M., et al., -Homozygous Loss-of-function Mutations in SOHLH1 in Patients With Nonsyndromic Hypergonadotropic Hypogonadism-, JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.100, 2015
dc.identifier.pubmed25774885
dc.identifier.urihttps://hdl.handle.net/20.500.12645/4880
dc.language.isoen
dc.rightsinfo:eu-repo/semantics/openAccessen
dc.subjectSOHLH1
dc.titleHomozygous Loss-of-function Mutations in SOHLH1 in Patients With Nonsyndromic Hypergonadotropic Hypogonadism
dc.typeArticle
dspace.entity.typePublication
local.article.journalnameCHIRURGISCHE GASTROENTEROLOGIE
local.avesis.id77fde6cd-010d-4bbd-920e-b54725ed1960
local.avesis.response4750
local.org.facultyTıp Fakültesi
relation.isAuthorOfPublicationb653abbc-327a-4b3b-a227-f3344d8d6b70
relation.isAuthorOfPublication.latestForDiscoveryb653abbc-327a-4b3b-a227-f3344d8d6b70
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