ArticleThe Journal of clinical endocrinology and metabolism2015
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.
Article in The Journal of clinical endocrinology and metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 35 citations in OpenAlex.
- A Novel BIRC6 Variant Impairs Apoptotic Regulation in Familial Premature Ovarian Insufficiency: Functional Validation in a CRISPR/Cas9 Zebrafish Model.Reproductive sciences (Thousand Oaks, Calif.) · 2026Article
- Expanding the Clinical and Molecular Spectrum ofmedRxiv : the preprint server for health sciences · 2025Article
- Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Conserved genes regulating human sex differentiation, gametogenesis and fertilization.Journal of translational medicine · 2024Review
- Primary ovarian insufficiency: update on clinical and genetic findings.Frontiers in endocrinology · 2024Review
- Sohlh1 loss of function male and female infertility model impacts overall health beyond gonadal dysfunction in mice†.Biology of reproduction · 2023Article
- Article
- Sumoylation regulates functional properties of the oocyte transcription factors SOHLH1 and NOBOX.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2023Article
- Rapid ovarian transcript changes during the onset of premature ovarian insufficiency.Reproduction & fertility · 2022Article
- The mutation c.346-1G > A in SOHLH1 impairs sperm production in the homozygous but not in the heterozygous condition.Human molecular genetics · 2022Article
- Transcriptome Sequencing-Based Mining of Genes Associated With Pubertal Initiation in Dolang Sheep.Frontiers in genetics · 2022Article
- Shared genetics between nonobstructive azoospermia and primary ovarian insufficiency.F&S reviews · 2021Article
- Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.Journal of the Endocrine Society · 2020Article
- Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.The Journal of clinical endocrinology and metabolism · 2019Article
- Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype-phenotype correlations.Human genetics · 2019Article
- Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.Human molecular genetics · 2018Article
- Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency.Molecular genetics & genomic medicine · 2018Article
- Ovarian Follicular Theca Cell Recruitment, Differentiation, and Impact on Fertility: 2017 Update.Endocrine reviews · 2018Review
- Transcription factors SOHLH1 and SOHLH2 coordinate oocyte differentiation without affecting meiosis I.The Journal of clinical investigation · 2017Article
Corrections and comments
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Authors and funding
24 authors at 6 institutions in 2 countries.
Funding
Abstract
contextHypergonadotropic 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.
objectivesThe aim of this study was to identify and report the gene responsible for autosomal-recessive hypergonadotropic hypogonadism in two unrelated families. DESIGN AND
participantsClinical evaluation and whole-exome sequencing were performed in two pairs of sisters with nonsyndromic hypergonadotropic hypogonadism from two unrelated families.
resultsExome 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.
conclusionsSohlh1 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.
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