{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Khayat MM"],"funding":["NIDDK NIH HHS","NHGRI NIH HHS","NCI NIH HHS","NLM NIH HHS","National Human Genome Research Institute","Cancer Prevention and Research Institute of Texas","National Science Foundation"],"pagination":["577-591"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8115934"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["42(5)"],"pubmed_abstract":["Xia-Gibbs syndrome (XGS) is a rare Mendelian disease typically caused by de novo stop-gain or frameshift mutations in the AT-hook DNA binding motif containing 1 (AHDC1) gene. Patients usually present in early infancy with hypotonia and developmental delay and later exhibit intellectual disability (ID). The overall presentation is variable, however, and the emerging clinical picture is still evolving. A detailed phenotypic analysis of 34 XGS individuals revealed five core phenotypes (delayed motor milestones, speech delay, low muscle tone, ID, and hypotonia) in more than 80% of individuals and an additional 12 features that occurred more variably. Seizures and scoliosis were more frequently associated with truncations that arise before the midpoint of the protein although the occurrence of "],"journal":["Human mutation"],"pubmed_title":["Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome."],"pmcid":["PMC8115934"],"funding_grant_id":["CA125123","HG008898","HG008986","K08 HG008986","U54 HG006542","P30 CA125123","T15 LM007093","UM1 HG006542","DK56338","P30 DK056338","RP150578","RP170719","UM1 HG008898"],"pubmed_authors":["Li H","Meng Q","Posey JE","Wangler M","Johnson HL","Gibbs RA","Stossi F","Shen H","Chander V","Murdock DR","Khayat MM","Hansen AW","Li S","Hu J","Traynelis J","Weissenberger G","Lupski JR","Sabo A"],"additional_accession":[]},"is_claimable":false,"name":"Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.","description":"Xia-Gibbs syndrome (XGS) is a rare Mendelian disease typically caused by de novo stop-gain or frameshift mutations in the AT-hook DNA binding motif containing 1 (AHDC1) gene. Patients usually present in early infancy with hypotonia and developmental delay and later exhibit intellectual disability (ID). The overall presentation is variable, however, and the emerging clinical picture is still evolving. A detailed phenotypic analysis of 34 XGS individuals revealed five core phenotypes (delayed motor milestones, speech delay, low muscle tone, ID, and hypotonia) in more than 80% of individuals and an additional 12 features that occurred more variably. Seizures and scoliosis were more frequently associated with truncations that arise before the midpoint of the protein although the occurrence of ","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 May","modification":"2026-05-31T07:59:18.735Z","creation":"2025-04-04T07:55:42.994Z"},"accession":"S-EPMC8115934","cross_references":{"pubmed":["33644933"],"doi":["10.1002/humu.24190"]}}