Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants
Sign Up to like & getrecommendations! 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.
Sign Up to like & getrecommendations! 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
CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty
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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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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
Sign Up to like & getrecommendations! 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