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   Articles with "chd7" as a keyword



Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants

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recommendations! Published in 2018 at "Genetics in Medicine"

DOI: 10.1038/gim.2017.197

Abstract: PurposeCongenital hypogonadotropic hypogonadism (CHH), a rare genetic disease caused by gonadotropin-releasing hormone deficiency, can also be part of complex syndromes (e.g., CHARGE syndrome). CHD7 mutations were reported in 60% of patients with CHARGE syndrome, and… read more here.

Keywords: charge syndrome; charge; chh; hypogonadotropic hypogonadism ... See more keywords

CHD7 regulates bone-fat balance by suppressing PPAR-γ signaling.

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recommendations! Published in 2022 at "Nature communications"

DOI: 10.1038/s41467-022-29633-6

Abstract: Chromodomain helicase DNA-binding protein 7 (CHD7), an ATP-dependent eukaryotic chromatin remodeling enzyme, is essential for the development of organs. The mutation of CHD7 is the main cause of CHARGE syndrome, but its function and mechanism… read more here.

Keywords: signaling chd7; balance; chd7 regulates; ppar signaling ... See more keywords

CHD7 regulates craniofacial cartilage development via controlling HTR2B expression

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recommendations! Published in 2024 at "Journal of Bone and Mineral Research"

DOI: 10.1093/jbmr/zjae024

Abstract: Abstract Mutations in the Chromodomain helicase DNA-binding protein 7 – coding gene (CHD7) cause CHARGE syndrome (CS). Although craniofacial and skeletal abnormalities are major features of CS patients, the role of CHD7 in bone and… read more here.

Keywords: cartilage development; craniofacial cartilage; cartilage; chd7 ... See more keywords
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CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty

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recommendations! Published in 2020 at "BMJ Case Reports"

DOI: 10.1136/bcr-2019-233037

Abstract: We report a case of CHARGE syndrome with atypical phenotype and a novel mutation in the CHD7 gene. Laryngomalacia and swallowing difficulties are prominent features in this case. These are commonly found in patients with… read more here.

Keywords: novel; syndrome patient; charge syndrome; charge ... See more keywords

A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing

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recommendations! Published in 2020 at "Neonatology"

DOI: 10.1159/000506165

Abstract: CHARGE syndrome has a clinically broad spectrum of phenotypes, including partial or atypical type. CHD7 mutation is related to CHARGE syndrome that shows various phenotypes according to the CHD7 variant. Developments in genetic analysis techniques,… read more here.

Keywords: charge syndrome; chd7; charge; chd7 variant ... See more keywords

Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome

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recommendations! Published in 2023 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2023.1082100

Abstract: Background: Because CHARGE syndrome is characterized by high clinical variability, molecular confirmation of the clinical diagnosis is of pivotal importance. Most patients have a pathogenic variant in the CHD7 gene; however, variants are distributed throughout… read more here.

Keywords: chd7 intronic; charge syndrome; intronic variant; variant ... See more keywords

CHD7 Disorder—Not CHARGE Syndrome—Presenting as Isolated Cochleovestibular Dysfunction

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recommendations! Published in 2024 at "Genes"

DOI: 10.3390/genes15050643

Abstract: CHARGE syndrome, characterized by a distinct set of clinical features, has been linked primarily to mutations in the CHD7 gene. Initially defined by specific clinical criteria, including coloboma, heart defects, choanal atresia, delayed growth, and… read more here.

Keywords: charge syndrome; chd7 disorder; chd7; chd7 variants ... See more keywords

Kallmann Syndrome: Functional Analysis of a CHD7 Missense Variant Shows Aberrant RNA Splicing

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recommendations! Published in 2024 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms252212061

Abstract: Kallmann syndrome is a rare disorder characterized by hypogonadotropic hypogonadism and an impaired sense of smell (anosmia or hyposmia) caused by congenital defects in the development of the gonadotropin-releasing hormone (GnRH) and olfactory neurons. Mutations… read more here.

Keywords: rna splicing; variant; missense; kallmann syndrome ... See more keywords

Genetic and Clinical Predictors of Hearing Loss Among Patients with CHARGE Syndrome.

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recommendations! Published in 2025 at "Journal of the American Academy of Audiology"

DOI: 10.3766/jaaa.230055

Abstract: Objective: CHARGE syndrome (CS) is a genetic disorder caused by pathogenic variants within chromodomainhelicase DNA-binding protein 7 (CHD7). The classical presentation includes coloboma,congenital heart defects, atresia of the choanae, retardation of development, genital hypoplasia, andear… read more here.

Keywords: loss; percent individuals; hearing loss; charge syndrome ... See more keywords