{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:08Z","timestamp":1772160068248,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,3,29]],"date-time":"2021-03-29T00:00:00Z","timestamp":1616976000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004923","name":"French Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["TRIM\u2010RD"],"award-info":[{"award-number":["TRIM\u2010RD"]}],"id":[{"id":"10.13039\/501100004923","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002915","name":"Fondation pour la Recherche M\u00e9dicale","doi-asserted-by":"publisher","award":["ECO2017 0637467"],"award-info":[{"award-number":["ECO2017 0637467"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    STIM1, the stromal interaction molecule 1, is the key protein for maintaining calcium concentration in the endoplasmic reticulum by triggering the Store Operated Calcium Entry (SOCE). Bi\u2010allelic mutations in\n                    <jats:italic>STIM1<\/jats:italic>\n                    gene are responsible for a loss\u2010of\u2010function in patients affected with a CRAC channelopathy syndrome in which severe combined immunodeficiency syndrome (SCID\u2010like), autoimmunity, ectodermal dysplasia and muscle hypotonia are combined. Here, we studied two siblings from a consanguineous Syrian family, presenting with muscle weakness, hyperlaxity, elastic skin, tooth abnormalities, dysmorphic facies, hypoplastic patellae and history of respiratory infections. Using exome sequencing, we have identified a new homozygous frameshift mutation in\n                    <jats:italic>STIM1<\/jats:italic>\n                    : c.685delT [p.(Phe229Leufs*12)], leading to a complete loss of STIM1 protein. In this study, we describe an unusual phenotype linked to STIM1 mutations, combining clinical signs usually observed in different STIM1\u2010related diseases. In particular, we confirmed that the complete loss of STIM1 function is not always associated with severe immune disorders. Altogether, our results broaden the spectrum of phenotypes associated with mutations in\n                    <jats:italic>STIM1<\/jats:italic>\n                    and opens new perspectives on the pathological mechanisms associated with a defect in the proteins constituting the SOCE complex.\n                  <\/jats:p>","DOI":"10.1111\/cge.13959","type":"journal-article","created":{"date-parts":[[2021,3,18]],"date-time":"2021-03-18T03:59:42Z","timestamp":1616039982000},"page":"84-89","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A novel bi\u2010allelic loss\u2010of\u2010function mutation in\n                    <scp>\n                      <i>STIM1<\/i>\n                    <\/scp>\n                    expands the phenotype of\n                    <scp>STIM1<\/scp>\n                    \u2010related diseases"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0148-2406","authenticated-orcid":false,"given":"Alexandra","family":"Salvi","sequence":"first","affiliation":[{"name":"Aix Marseille Univ, INSERM, MMG  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Skrypnyk","sequence":"additional","affiliation":[{"name":"Al Jawhara Center for Molecular Medicine, Department of Molecular Medicine College of Medicine and Medical Sciences, Arabian Gulf University  Bahrain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Da Silva","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, INSERM, MMG  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jon Andoni","family":"Urtizberea","sequence":"additional","affiliation":[{"name":"Institut de Myologie Salp\u00eatri\u00e8re Hospital  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moiz","family":"Bakhiet","sequence":"additional","affiliation":[{"name":"Al Jawhara Center for Molecular Medicine, Department of Molecular Medicine College of Medicine and Medical Sciences, Arabian Gulf University  Bahrain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Robert","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, INSERM, MMG  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas","family":"L\u00e9vy","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, INSERM, MMG  Marseille France"},{"name":"AP\u2010HM, D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital d'Enfants de la Timone  Marseille France"},{"name":"GIPTIS, Genetics Institute for Patients Therapies Innovation and Science  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0714-2469","authenticated-orcid":false,"given":"Andr\u00e9","family":"Megarban\u00e9","sequence":"additional","affiliation":[{"name":"Institut J\u00e9r\u00f4me Lejeune  Paris France"},{"name":"Department of Human Genetics, Gilbert and Rose\u2010Marie Ghagoury School of Medicine Lebanese American University  Byblos Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Delague","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, INSERM, MMG  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3339-9858","authenticated-orcid":false,"given":"Marc","family":"Bartoli","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, INSERM, MMG  Marseille France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,3,29]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2005.05.055"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature04702"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/nyas.12938"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2020.604941"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz060"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky471"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3592"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23880"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.10.1893"},{"issue":"3","key":"e_1_2_8_12_1","first-page":"1523","article-title":"Antiviral 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