{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T06:17:25Z","timestamp":1790749045777,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,8,4]],"date-time":"2017-08-04T00:00:00Z","timestamp":1501804800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["1U54HG006542"],"award-info":[{"award-number":["1U54HG006542"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>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\u2010Native American families, who were found to have <jats:italic>STAC3<\/jats:italic> pathogenic variants. The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey\u2013Fineman\u2013Ziter 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&gt;C;p.Trp284Ser variant in <jats:italic>STAC3<\/jats:italic> in both sisters. The second proband and his affected sister are from a non\u2010consanguineous, Puerto Rican family who was evaluated for a possible diagnosis of Moebius syndrome (MBS). His features included facial and generalized weakness, minimal limitation of horizontal gaze, cleft palate, and hypotonia, and he has a history of MH. The siblings were identified to be compound heterozygous for <jats:italic>STAC3<\/jats:italic> variants c.851G&gt;C;p.Trp284Ser and c.763_766delCTCT;p.Leu255IlefsX58. Given the phenotypic overlap of individuals with CFZS, MBS, and NAM, we screened <jats:italic>STAC3<\/jats:italic> in 12 individuals diagnosed with CFZS and in 50 individuals diagnosed with MBS or a congenital facial weakness disorder. We did not identify any rare coding variants in <jats:italic>STAC3<\/jats:italic>. NAM should be considered in patients presenting with facial and generalized weakness, normal or mildly abnormal extraocular movement, hypotonia, cleft palate, and scoliosis, particularly if there is a history of MH.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38375","type":"journal-article","created":{"date-parts":[[2017,8,4]],"date-time":"2017-08-04T13:52:47Z","timestamp":1501854767000},"page":"2763-2771","source":"Crossref","is-referenced-by-count":40,"title":["Identification of <i>STAC3<\/i> variants in non\u2010Native American families with overlapping features of Carey\u2013Fineman\u2013Ziter syndrome and Moebius syndrome"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4211-5928","authenticated-orcid":false,"given":"Aida","family":"Telegrafi","sequence":"first","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6174-4677","authenticated-orcid":false,"given":"Bryn D.","family":"Webb","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah M.","family":"Robbins","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos E.","family":"Speck\u2010Martins","sequence":"additional","affiliation":[{"name":"Medical Genetic Unit SARAH Network of Rehabilitation Hospitals Brasilia\u2010DF Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"FitzPatrick","sequence":"additional","affiliation":[{"name":"Human Genetics Unit, Medical and Developmental Genetics University of Edinburgh Western General Hospital Edinburgh United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6742-7223","authenticated-orcid":false,"given":"Leah","family":"Fleming","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Redett","sequence":"additional","affiliation":[{"name":"Department of Plastic &amp; Reconstructive Surgery Johns Hopkins Hospital University School of Medicine Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Dufke","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen T\u00fcbingen Germany"},{"name":"Rare Disease Center University of T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6102-1513","authenticated-orcid":false,"given":"Gunnar","family":"Houge","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics and Molecular Medicine Haukeland University Hospital Bergen Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeske J. T.","family":"van Harssel","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University Medical Center, University of Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[{"name":"Department of Genetics\u2014Hospital Robert DEBRE Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Robles","sequence":"additional","affiliation":[{"name":"Dr. Angela Robles Pediatrics Private Practice San Sebastian Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irini","family":"Manoli","sequence":"additional","affiliation":[{"name":"Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth C.","family":"Engle","sequence":"additional","affiliation":[{"name":"Department of Neurology Boston Children's Hospital and Harvard Medical School Boston Massachusetts"},{"name":"Department of Ophthalmology Boston Children's Hospital and Harvard Medical School Boston Massachusetts"},{"name":"Howard Hughes Medical Institution Chevy Chase Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Moebius Syndrome Research Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ethylin W.","family":"Jabs","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Valle","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Carey","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Utah Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1242-5626","authenticated-orcid":false,"given":"Julie E.","family":"Hoover\u2010Fong","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland"},{"name":"Greenberg Center for Skeletal Dysplasias Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nara L. M.","family":"Sobreira","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,8,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530208"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M112.361311"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20689"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80348-X"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13395-016-0088-4"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20686"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0034-7094(13)70234-4"},{"key":"e_1_2_7_9_1","article-title":"Novel STAC3 mutations in the first non\u2010Amerindian patient with native american myopathy","author":"Grzybowski M.","year":"2017","journal-title":"Neuropediatrics"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22283"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms2952"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkn828"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8794-7-20"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2014.01.006"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20688"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.316.5826.826"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1310571110"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0062760"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu021"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990115)82:2<110::AID-AJMG2>3.0.CO;2-O"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460625"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22769"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32370"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000325060.16532.40"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(88)90086-0"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms8199"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20687"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.018"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38375","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38375","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.38375","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38375","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T22:31:53Z","timestamp":1693348313000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38375"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,4]]},"references-count":30,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2017,10]]}},"alternative-id":["10.1002\/ajmg.a.38375"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38375","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,4]]}}}