{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Telegrafi A"],"funding":["Eunice Kennedy Shriver National Institute of Child Health and Human Development","NICHD NIH HHS","NCATS NIH HHS","NHGRI NIH HHS","National Human Genome Research Institute","NIGMS NIH HHS"],"pagination":["2763-2771"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5843189"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["173(10)"],"pubmed_abstract":["Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). Here we present two non-Native American families, who were found to have STAC3 pathogenic variants. The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis. We identified the homozygous c.851G>C;p.T"],"journal":["American journal of medical genetics. Part A"],"pubmed_title":["Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome."],"pmcid":["PMC5843189"],"funding_grant_id":["UM1 HG006542","U01 HD079068","UL1 TR001067","U54 HG006542","T32 GM007814","T32 GM007748","U54 HD090255","1U54HG006542"],"pubmed_authors":["Manoli I","Hoover-Fong JE","Sobreira NLM","Verloes A","Engle EC","Fleming L","Redett R","Robles A","Jabs EW","FitzPatrick D","van Harssel JJT","Dufke A","Carey J","Speck-Martins CE","Houge G","Telegrafi A","Valle D","Webb BD","Robbins SM","Moebius Syndrome Research Consortium"],"additional_accession":[]},"is_claimable":false,"name":"Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.","description":"Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). Here we present two non-Native American families, who were found to have STAC3 pathogenic variants. The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis. We identified the homozygous c.851G>C;p.T","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Oct","modification":"2025-04-18T11:48:55.55Z","creation":"2019-03-26T23:58:51Z"},"accession":"S-EPMC5843189","cross_references":{"pubmed":["28777491"],"doi":["10.1002/ajmg.a.38375"]}}