ArticleScientific reports2019
High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 23 citations in OpenAlex.
- Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.American journal of human genetics · 2026Article
- Expanded Targeted-Exome Sequencing and Functional Validation Improve Molecular Diagnosis and Refine Genotype-Phenotype Correlations in Congenital Hypogonadotropic Hypogonadism.Neuroendocrinology · 2026Article
- CHD7 regulates definitive endodermal and mesodermal development from human embryonic stem cells.Stem cell research & therapy · 2025Article
- Kallmann Syndrome: Functional Analysis of aInternational journal of molecular sciences · 2024Article
- Mini-Puberty, Physiological and Disordered: Consequences, and Potential for Therapeutic Replacement.Endocrine reviews · 2024Review
- Toward clinical exomes in diagnostics and management of male infertility.American journal of human genetics · 2024Article
- Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort.Human reproduction open · 2024Article
- A clinical case of identical twins with hypogonadotropic hypogonadism, primary empty sella syndrome and identified rareClinical case reports · 2023Article
- Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report.BMC endocrine disorders · 2023Article
- A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.Human molecular genetics · 2023Article
- A NovelInternational journal of molecular sciences · 2022Article
- CHD7 in oocytes is essential for female fertility.Annals of translational medicine · 2022Article
- Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings.Endocrine connections · 2022Article
- [Molecular genetics and phenotypic features of congenital isolated hypogonadotropic hypogonadism].Problemy endokrinologii · 2021Article
- Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease.Human genetics · 2021Review
- Classification ofFrontiers in genetics · 2021Article
- CHD7 regulates cardiovascular development through ATP-dependent and -independent activities.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- CHD7 missense variants and clinical characteristics of Chinese males with infertility.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
10 authors at 6 institutions in 1 country.
Funding
Abstract
Congenital hypogonadotropic hypogonadism (CHH) is characterized by lack of normal pubertal development due to deficient gonadotropin-releasing hormone (GnRH) secretion or action, and is caused by genetic defects in several genes. Mutations in the CHD7 gene cause CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and development, Genital hypoplasia and Ear abnormalities), but have also been found in patients with isolated CHH. The aim of this study was to identify CHD7 mutations in patients with CHH. Fifty Portuguese patients with CHH were screened for mutations in the CHD7 gene by DNA sequencing. Eight (16%) patients had CHD7 rare sequence variants that consisted of six missense (p.Gly388Glu, p.His903Pro, p.Thr1082Ile, p.Val1452Leu, p.Asp1854Gly, and p.Arg2065His) and two synonymous (p.Ser559Ser, and p.Ala2785Ala) mutations. Five of these mutations have never been reported before. Three CHD7 mutations occurred in patients that had mutations in additional CHH-genes. This study uncovered novel genetic variants that expand the known spectrum of mutations associated with CHH. The frequency of CHD7 mutations in this cohort was higher than that of other major CHH-genes and confirms the importance of including CHD7 in the genetic testing of CHH, even in the absence of additional CHARGE features.
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