{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Weiss K"],"funding":["Intramural NIH HHS","NHLBI NIH HHS","National Institute for Health Research (NIHR)","Wellcome Trust","NIH HHS"],"pagination":["389-397"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8900827"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["22(2)"],"pubmed_abstract":["<h4>Purpose</h4>Sifrim-Hitz-Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants inCHD4. In this study, we investigated the clinical spectrum of the disorder, genotype-phenotype correlations, and the effect of different missense variants on CHD4 function.<h4>Methods</h4>We collected clinical and molecular data from 32 individuals with mostly de novo variants in CHD4, identified through next-generation sequencing. We performed adenosine triphosphate (ATP) hydrolysis and nucleosome remodeling assays on variants from five different CHD4 domains.<h4>Results</h4>The majority of participants had global developmental delay, mild to moderate intellectual disability, brain anomalies, congenital heart defects, and dysmorphic features. "],"journal":["Genetics in medicine : official journal of the American College of Medical Genetics"],"pubmed_title":["The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis."],"pmcid":["PMC8900827"],"funding_grant_id":["UM1 HL172717","UM1 HL128711","UM1 HL098147","S10 OD026880","Z01 ES101965","UM1 HL098123","HICF-1009-003","U01 HL131003","ZIA ES101965","WT098051","UM1 HL128761","UM1 HL098162"],"pubmed_authors":["Keren B","Clayton-Smith J","Medne L","Quinonez SC","Takaku M","Terhal P","Wright M","Zackai EH","Ghoumid J","Hove H","Roeder ER","Kurolap A","Krock B","Petrovich RM","Rumple M","Kurumizaka H","Smol T","Lazar HP","Campeau PM","Colin E","Santani A","Jain M","Dubbs HA","Gambello M","Nugent K","van Haeringen A","Skraban CM","Parker MJ","Wade PA","Monteil D","Turnpenny P","Gelb BD","Schrier Vergano SA","Martinez AF","Lachlan K","Whalen S","Ziegler A","Smeland MF","Kenney A","Paperna T","Weiss K","DeChene E","Cohen L","Heide S","Irving M","Roberts JD","Metcalfe K","Baris Feldman H","Muenke M"],"additional_accession":[]},"is_claimable":false,"name":"The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.","description":"<h4>Purpose</h4>Sifrim-Hitz-Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants inCHD4. In this study, we investigated the clinical spectrum of the disorder, genotype-phenotype correlations, and the effect of different missense variants on CHD4 function.<h4>Methods</h4>We collected clinical and molecular data from 32 individuals with mostly de novo variants in CHD4, identified through next-generation sequencing. We performed adenosine triphosphate (ATP) hydrolysis and nucleosome remodeling assays on variants from five different CHD4 domains.<h4>Results</h4>The majority of participants had global developmental delay, mild to moderate intellectual disability, brain anomalies, congenital heart defects, and dysmorphic features. ","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Feb","modification":"2026-05-31T02:02:06.905Z","creation":"2024-11-09T08:03:34.374Z"},"accession":"S-EPMC8900827","cross_references":{"pubmed":["31388190"],"doi":["10.1038/s41436-019-0612-0"]}}