ArticleEndocrine2017
A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.
Article in Endocrine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 25 citations in OpenAlex.
- Primary ovarian insufficiency due to homozygous variants in the homeobox transcription factor NOBOX.Molecular biology reports · 2025Article
- The impact of prenatal amoxicillin exposure at different doses, stages, and courses on offspring ovarian development.Molecular medicine (Cambridge, Mass.) · 2025Article
- Oocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.Journal of assisted reproduction and genetics · 2025Article
- NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.Journal of assisted reproduction and genetics · 2024Article
- Hypo-Hydroxymethylation of Nobox is Associated with Ovarian Dysfunction in Rat Offspring Exposed to Prenatal Hypoxia.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.Molecular genetics & genomic medicine · 2021Article
- Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.Frontiers in endocrinology · 2021Article
- Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.Journal of the Endocrine Society · 2020Article
- The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report.Frontiers in endocrinology · 2020Article
- SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo.Clinics (Sao Paulo, Brazil) · 2020Article
- Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.PloS one · 2020Article
- Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency.The Journal of clinical endocrinology and metabolism · 2019Article
- Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency.Journal of ovarian research · 2018Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
purposePrimary ovarian failure (POF) is characterized by amenorrhea, hypoestrogenism, and elevated gonadotropin levels in women leading to infertility under the age of 40 years. POF is a heterogeneous disease with different causes, and several genes have been associated with the POF phenotype. Thus, Whole-exome sequencing (WES) was performed in a consanguineous family with two sisters affected by POF.
methodsAll exons of both sisters were massively sequenced by WES, and the segregation was confirmed by Sanger sequencing.
resultsThe novel homozygous c.1489delT variant in the NOBOX gene was identified in the two sisters with POF. Their parents were heterozygous carriers of this variant and, therefore, consistent with an autosomal recessive mode of inheritance. The c.1489delT NOBOX variant has not been previously reported in any public available databases (1000Genomes, 6500ESP/EVS, ExAC, and gnomAD). Furthermore, this variant was neither present in 387 Brazilian exomes control individuals nor in 200 fertile Brazilian women screened by Sanger sequencing.
conclusionWe report the first familial case of a novel homozygous NOBOX variant with an autosomal recessive mode of inheritance, thus allowing for a genetic diagnosis of primary ovarian failure.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.