The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

doi:10.1210/jc.2014-2110

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

Community

Back to search

Article

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

The Journal of clinical endocrinology and metabolism - 1 Oct 2014

Marcos Séverine, Sarfati Julie, Leroy Chrystel, Fouveaut Corinne, Parent Philippe, Metz Chantal, Wolczynski Slawomir, Gérard Marion, Bieth Eric, Kurtz François, Verier-Mine Odile, Perrin Laurence, Archambeaud Françoise, Cabrol Sylvie, Rodien Patrice, Hove Hanne, Prescott Trine, Lacombe Didier, Christin-Maitre Sophie, Touraine Philippe, Hieronimus Sylvie, Dewailly Didier, Young Jacques, Pugeat Michel, Hardelin Jean-Pierre, Dodé Catherine

Abstract excerpt

CONTEXT: Mutations in CHD7, a gene previously implicated in CHARGE (coloboma, heart defect, choanal atresia, retardation of growth and/or development, genital hypoplasia, ear anomalies) syndrome, have been reported in patients presenting with Kallmann syndrome (KS) or congenital hypogonadotropic hypogonadism (CHH). Most mutations causing CHARGE syndrome result in premature stop codons and occur de novo, but the...

Read the complete abstract on PubMed

Topics

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

Share to CHARGE Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Helicases

Share to Family Health

Share to Frameshift Mutation

Share to Heterozygote

Share to Kallmann Syndrome

Share to Mutation, Missense

Share to Prevalence

Source

Open in PubMed

Identifiers

PMID: 25077900
DOI: 10.1210/jc.2014-2110

Genes

CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.PMID 25077900Read ↗

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.Semantic proximity Read ↗

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.Semantic proximity Read ↗

Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome.Semantic proximity Read ↗

Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome.Semantic proximity Read ↗

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.Semantic proximity Read ↗

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

Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.Semantic proximity Read ↗

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.Semantic proximity Read ↗

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.Semantic proximity Read ↗

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.Semantic proximity Read ↗

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.Semantic proximity Read ↗

Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis.Semantic proximity Read ↗

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