{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["German RJ"],"funding":["NICHD NIH HHS","Jan and Dan Neurological Research Institute","NHGRI NIH HHS","National Human Genome Research Institute"],"pagination":["e63849"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11637962"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["197(1)"],"pubmed_abstract":["We report a 40-year-old African American female with a novel variant in exon 8 of DNA methyltransferase 3 alpha (DNMT3A), (NM_022552.4: c.905G>C, p.G302A) who presented with a history of recurrent carotid paragangliomas, mediastinal mass, intellectual disability, dysarthria, cholelithiasis, diabetes mellitus, hypertension, and dysmorphic features. We interpret this novel variant as likely pathogenic and causative for the patient's syndromic features of Heyn-Sproul-Jackson syndrome. Heyn-Sproul-Jackson syndrome is a condition caused by gain-of-function genetic changes in DNMT3A. Paragangliomas have also been observed in non-syndromic patients with genetic alterations in DNMT3A. We describe a patient with clinical features of Heyn-Sproul-Jackson syndrome such as intellectual disability, dysa"],"journal":["American journal of medical genetics. Part A"],"pubmed_title":["Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha."],"pmcid":["PMC11637962"],"funding_grant_id":["R01HG011795","R01 HG011795","P30 HD024064"],"pubmed_authors":["German RJ","Tedder ML","Texome Project","Bacino CA","Wangler M","Vuocolo B","Kerkhof J","Vossaert L","Saba L","Sadikovic B","Fletcher R"],"additional_accession":[]},"is_claimable":false,"name":"Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha.","description":"We report a 40-year-old African American female with a novel variant in exon 8 of DNA methyltransferase 3 alpha (DNMT3A), (NM_022552.4: c.905G>C, p.G302A) who presented with a history of recurrent carotid paragangliomas, mediastinal mass, intellectual disability, dysarthria, cholelithiasis, diabetes mellitus, hypertension, and dysmorphic features. We interpret this novel variant as likely pathogenic and causative for the patient's syndromic features of Heyn-Sproul-Jackson syndrome. Heyn-Sproul-Jackson syndrome is a condition caused by gain-of-function genetic changes in DNMT3A. Paragangliomas have also been observed in non-syndromic patients with genetic alterations in DNMT3A. We describe a patient with clinical features of Heyn-Sproul-Jackson syndrome such as intellectual disability, dysa","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jan","modification":"2026-06-06T08:59:02.602Z","creation":"2026-05-28T03:12:10.699Z"},"accession":"S-EPMC11637962","cross_references":{"pubmed":["39166703"],"doi":["10.1002/ajmg.a.63849"]}}