Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism.

Adolescent Adult Dual Specificity Phosphatase 6 / genetics Female Genetic Association Studies Genetic Predisposition to Disease Genotype Humans Hypogonadism / epidemiology Intracellular Signaling Peptides and Proteins / genetics Male Mutation / genetics Nerve Tissue Proteins / genetics Receptors, Interleukin / genetics Exome Sequencing Young Adult
clinical genetics complex traits developmental endocrinology genetics

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
01 2021
Historique:
received: 17 12 2019
revised: 13 02 2020
accepted: 09 03 2020
pubmed: 12 5 2020
medline: 11 9 2021
entrez: 12 5 2020
Statut: ppublish

Résumé

FGF8-FGFR1 signalling is involved in multiple biological processes, while impairment of this signalling is one of the main reasons for isolated hypogonadotropic hypogonadism (IHH). Recently, several negative modulators of FGF8-FGFR1 signalling were also found to be involved in IHH, including A total of 196 patients with IHH were enrolled in this study. Whole-exome sequencing was performed to identify variants, which was verified by PCR and Sanger sequencing. Four heterozygous Our study greatly enriched the genotypic and phenotypic spectra of

Sections du résumé

BACKGROUND
FGF8-FGFR1 signalling is involved in multiple biological processes, while impairment of this signalling is one of the main reasons for isolated hypogonadotropic hypogonadism (IHH). Recently, several negative modulators of FGF8-FGFR1 signalling were also found to be involved in IHH, including
METHODS
A total of 196 patients with IHH were enrolled in this study. Whole-exome sequencing was performed to identify variants, which was verified by PCR and Sanger sequencing.
RESULTS
Four heterozygous
CONCLUSION
Our study greatly enriched the genotypic and phenotypic spectra of

Identifiants

DOI: 10.1136/jmedgenet-2019-106786 PMID: 32389901
pubmed: 32389901
pii: jmedgenet-2019-106786
doi: 10.1136/jmedgenet-2019-106786
doi:

Substances chimiques

IL17RD protein, human 0
Intracellular Signaling Peptides and Proteins 0
Nerve Tissue Proteins 0
Receptors, Interleukin 0
SPRY4 protein, human 0
DUSP6 protein, human EC 3.1.3.48
Dual Specificity Phosphatase 6 EC 3.1.3.48

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

66-72

Informations de copyright

© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Meichao Men (M)

Health Management Center, Xiangya Hospital Central South University, Changsha, Hunan, China.
Central South University School of Life Sciences, Changsha, Hunan, China.
Hunan Key Laboratory of Animal Models for Human Diseases, Central South University, Changsha, China.
ORCID: 0000-0003-2558-739X

Xinying Wang (X)

Central South University School of Life Sciences, Changsha, Hunan, China.
Hunan Key Laboratory of Animal Models for Human Diseases, Central South University, Changsha, China.
Hunan Key Laboratory of Medical Genetics, Central South University, Changsha, China.

Jiayu Wu (J)

Central South University School of Life Sciences, Changsha, Hunan, China.
Hunan Key Laboratory of Animal Models for Human Diseases, Central South University, Changsha, China.
Hunan Key Laboratory of Medical Genetics, Central South University, Changsha, China.

Wang Zeng (W)

Central South University School of Life Sciences, Changsha, Hunan, China.
Hunan Key Laboratory of Animal Models for Human Diseases, Central South University, Changsha, China.
Hunan Key Laboratory of Medical Genetics, Central South University, Changsha, China.

Fang Jiang (F)

Central South University School of Life Sciences, Changsha, Hunan, China.
Hunan Key Laboratory of Animal Models for Human Diseases, Central South University, Changsha, China.
Hunan Key Laboratory of Medical Genetics, Central South University, Changsha, China.

Ruizhi Zheng (R)

Department of Endocrinology, Henan Provincial People's Hospital, Zhengzhou, Henan, China lijiada@sklmg.edu.cn zrz820@126.com.

Jia-Da Li (JD)

Central South University School of Life Sciences, Changsha, Hunan, China lijiada@sklmg.edu.cn zrz820@126.com.
Hunan Key Laboratory of Animal Models for Human Diseases, Central South University, Changsha, China.
Hunan Key Laboratory of Medical Genetics, Central South University, Changsha, China.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Prevalence and associated phenotypes of DUSP6,...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Prevalence and associated phenotypes of DUSP6,...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protein Tyrosine Phosphatases › Dual-specificity phosphatases › Dual Specificity Phosphatase 6 › Prevalence and associated phenotypes of DUSP6,...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › Prevalence and associated phenotypes of DUSP6,...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Prevalence and associated phenotypes of DUSP6,...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prevalence and associated phenotypes of DUSP6,...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Prevalence and associated phenotypes of DUSP6,...
questionsmedicales.fr › Maladies endocriniennes › Troubles gonadiques › Hypogonadisme › Prevalence and associated phenotypes of DUSP6,...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Prevalence and associated phenotypes of DUSP6,...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Prevalence and associated phenotypes of DUSP6,...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › Prevalence and associated phenotypes of DUSP6,...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs immunologiques › Récepteurs aux cytokines › Récepteurs aux interleukines › Prevalence and associated phenotypes of DUSP6,...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome › Prevalence and associated phenotypes of DUSP6,...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Jeune adulte › Prevalence and associated phenotypes of DUSP6,...