biostudies-literatureTelegrafi AEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNICHD NIH HHSNCATS NIH HHSNHGRI NIH HHSNational Human Genome Research InstituteNIGMS NIH HHS2763-2771https://www.ebi.ac.uk/biostudies/studies/S-EPMC5843189biostudies-literatureUnknown173(10)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.TAmerican journal of medical genetics. Part AIdentification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.PMC5843189UM1 HG006542U01 HD079068UL1 TR001067U54 HG006542T32 GM007814T32 GM007748U54 HD0902551U54HG006542Manoli IHoover-Fong JESobreira NLMVerloes AEngle ECFleming LRedett RRobles AJabs EWFitzPatrick Dvan Harssel JJTDufke ACarey JSpeck-Martins CEHouge GTelegrafi AValle DWebb BDRobbins SMMoebius Syndrome Research ConsortiumfalseIdentification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.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.T2017-01-01T00:00:00Z2017 Oct2025-04-18T11:48:55.55Z2019-03-26T23:58:51ZS-EPMC58431892877749110.1002/ajmg.a.38375