Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional Validation and Phenotypic Spectrum of Splice-Site Variants in CHD7 , FGFR1 , and ANOS1 in Congenital Hypogonadotropic Hypogonadism.

Clinical genetics - 1 May 2026

Li Yuting, Zhang Pingchuan, Guan Jun, He Chengli, Fu Jianglan, Zheng Ruizhi, Chen Danna, Tang Xiong, Men Meichao, Chen Zhiheng, Li Jia-Da

Abstract excerpt

To determine the prevalence of CHD7, FGFR1 and ANOS1 variants and the impacts of their splicing variants on mis-splicing in patients with congenital hypogonadotropic hypogonadism (CHH). Based on the whole-exome sequencing data from 280 CHH probands, we identified 15 potential splice-site variants in CHD7, ANOS1 and FGFR1 by using in silico software. The functional consequences of these variants were analyzed by...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Helicases
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Hypogonadism

Share to Nerve Tissue Proteins

Share to Receptor, Fibroblast Growth Factor, Type 1

Share to RNA Splice Sites

Share to RNA Splicing

Source

Identifiers

PMID: 41269091
DOI: 10.1111/cge.70114

Genes

ANOS1
CHD7
FGFR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional Validation and Phenotypic Spectrum of Splice-Site Variants in CHD7 , FGFR1 , and ANOS1 in Congenital Hypogonadotropic Hypogonadism.PMID 41269091Read ↗

ANOS1 variants in a large cohort of Chinese patients with congenital hypogonadotropic hypogonadism.Semantic proximity Read ↗

Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism.Semantic proximity Read ↗

Identification of gene variants in a cohort of hypogonadotropic hypogonadism: Diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease.Semantic proximity Read ↗

[Clinical feature and genetic analysis of a patient with Idiopathic hypogonadotropic hypogonadism due to a novel variant of CHD7 gene].Semantic proximity Read ↗

A novel splice site variant in ANOS1 gene leads to Kallmann syndrome in three siblings.Semantic proximity Read ↗

[Analysis of CHD7 gene variants in 22 patients with idiopathic hypogonadotropic hypogonadism].Semantic proximity Read ↗

Exploring the role of non-canonical splice site variants in aberrant splicing associated with reproductive genetic disorders.Semantic proximity Read ↗

[Kallmann syndrome in a girl caused by a novel CHD7 variant].Semantic proximity Read ↗

Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism.Semantic proximity Read ↗

Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort.Semantic proximity Read ↗

Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern China.Semantic proximity Read ↗

GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.