{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T04:18:18Z","timestamp":1784002698745,"version":"3.55.0"},"reference-count":6,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,8,7]],"date-time":"2019-08-07T00:00:00Z","timestamp":1565136000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>SMG9 deficiency is an extremely rare autosomal recessive condition originally described in three patients from two families harboring homozygous truncating <jats:italic>SMG9<\/jats:italic> variants in a context of severe syndromic developmental disorder. To our knowledge, no additional patient has been described since this first report.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed exome sequencing in a patient exhibiting a syndromic developmental delay and in her unaffected parents and report the phenotypic features.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Our patient presented with a syndromic association of severe global developmental delay and diverse malformations, including cleft lip and palate, facial dysmorphic features, brain abnormalities, heart defect, growth retardation, and severe infections. She carried a novel <jats:italic>SMG9<\/jats:italic> homozygous variant NM_019108.3:c.1177C&gt;T, p.(Gln393*), while her unaffected parents were both heterozygous.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We confirm that bi\u2010allelic truncating <jats:italic>SMG9<\/jats:italic> variants cause a severe developmental syndrome including brain and heart malformations associated with facial dysmorphic features, severe growth and developmental delay with or without ophthalmological abnormalities, severe feeding difficulties, and life\u2010threatening infections.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.61317","type":"journal-article","created":{"date-parts":[[2019,8,7]],"date-time":"2019-08-07T12:45:27Z","timestamp":1565181927000},"page":"2257-2262","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Confirmation and further delineation of the SMG9\u2010deficiency syndrome, a rare and severe developmental disorder"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9110-1856","authenticated-orcid":false,"given":"Fran\u00e7ois","family":"Lecoquierre","sequence":"first","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Bonnevalle","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Chadie","sequence":"additional","affiliation":[{"name":"Department of Neonatal Pediatrics and Intensive Care\u2014Neuropediatrics Rouen University Hospital  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Gayet","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Rouen University Hospital  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e9mentine","family":"Dumant\u2010Forest","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Rouen University Hospital  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariette","family":"Renaux\u2010Petel","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Rouen University Hospital  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Baptiste","family":"Leca","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Rouen University Hospital  Rouen 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Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Quenez","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Boland","sequence":"additional","affiliation":[{"name":"Centre National de Recherche en G\u00e9nomique Humaine (CNRGH) Institut de Biologie Fran\u00e7ois Jacob, CEA, Universit\u00e9 Paris\u2010Saclay  Evry 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University Hospital  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Saugier\u2010Veber","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Marie","family":"Guerrot","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9391-7800","authenticated-orcid":false,"given":"Ga\u00ebl","family":"Nicolas","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,8,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq749"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz095"},{"key":"e_1_2_7_4_1","doi-asserted-by":"crossref","unstructured":"Karczewski K. 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