{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Gao J"],"funding":["NICHD NIH HHS","NHLBI NIH HHS"],"pagination":["188-194"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9905590"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["31(2)"],"pubmed_abstract":["Cantu Syndrome (CS), [OMIM #239850] is characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly. CS is caused by gain-of-function (GOF) variants in the KCNJ8 or ABCC9 genes that encode pore-forming Kir6.1 and regulatory SUR2 subunits of ATP-sensitive potassium (K<sub>ATP</sub>) channels. Many subjects with CS also present with the complication of lymphedema. A previously uncharacterized, heterozygous ABCC9 variant, p.(Leu1055_Glu1058delinsPro), termed indel1055, was identified in an individual diagnosed with idiopathic lymphedema. The variant was introduced into the equivalent position of rat SUR2A, and inside-out patches were used to characterize the K<sub>ATP</sub> channels formed by Kir6.2 and WT or mutant SUR2A subunits coexpressed in Cosm6 cells. The indel1055 variant "],"journal":["European journal of human genetics : EJHG"],"pubmed_title":["Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9."],"pmcid":["PMC9905590"],"funding_grant_id":["R00 HL150277","R35 HL140024","K99 HL150277","R21 HD103347"],"pubmed_authors":["McClenaghan C","van Haelst MM","Nichols CG","Christiaans I","Gao J","Alders M","van Haaften G","van Duinen K"],"additional_accession":[]},"is_claimable":false,"name":"Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9.","description":"Cantu Syndrome (CS), [OMIM #239850] is characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly. CS is caused by gain-of-function (GOF) variants in the KCNJ8 or ABCC9 genes that encode pore-forming Kir6.1 and regulatory SUR2 subunits of ATP-sensitive potassium (K<sub>ATP</sub>) channels. Many subjects with CS also present with the complication of lymphedema. A previously uncharacterized, heterozygous ABCC9 variant, p.(Leu1055_Glu1058delinsPro), termed indel1055, was identified in an individual diagnosed with idiopathic lymphedema. The variant was introduced into the equivalent position of rat SUR2A, and inside-out patches were used to characterize the K<sub>ATP</sub> channels formed by Kir6.2 and WT or mutant SUR2A subunits coexpressed in Cosm6 cells. The indel1055 variant ","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Feb","modification":"2025-04-26T11:46:31.874Z","creation":"2025-02-19T05:00:00.375Z"},"accession":"S-EPMC9905590","cross_references":{"pubmed":["36336713"],"doi":["10.1038/s41431-022-01210-x"]}}