{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T18:00:02Z","timestamp":1778868002445,"version":"3.51.4"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,12,29]],"date-time":"2020-12-29T00:00:00Z","timestamp":1609200000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["K210115"],"award-info":[{"award-number":["K210115"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003130","name":"Fonds Wetenschappelijk Onderzoek","doi-asserted-by":"publisher","award":["V405213N"],"award-info":[{"award-number":["V405213N"]}],"id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["UM1 HG006542"],"award-info":[{"award-number":["UM1 HG006542"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Xia\u2010Gibbs syndrome (XGS) is a very rare genetic condition. The clinical spectrum is very broad and variable. The phenotype and evolution in a Congolese boy with XGS have been reported. At 6\u2009years he had speech delay, drooling, marked hyperactivity, attention deficit, aggressive behavior, and intellectual disability. Dysmorphological evaluation revealed strabismus, mild unilateral ptosis, uplifted ear lobes, flat philtrum, thin upper lip vermillion, high arched palate, and flat feet. Patient\u2010only whole exome sequencing identified a known pathogenic frameshift variant in the <jats:italic>AHDC1<\/jats:italic> gene [NM_001029882.3(AHDC1):c.1122dupC;(p.Gly375ArgfsTer3)]. The clinical follow\u2010up revealed the deterioration of his fine motor skills and significant cerebellar phenotype including tremor, <jats:italic>pes cavus<\/jats:italic>, and gait instability at the age of 12\u2009years. This patient was compared with three previously reported patients with the same variant but did not identify a consistent pattern in the evolution of symptoms with age.<\/jats:p>","DOI":"10.1002\/ajmg.a.62049","type":"journal-article","created":{"date-parts":[[2020,12,29]],"date-time":"2020-12-29T08:52:56Z","timestamp":1609231976000},"page":"990-994","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Clinical presentation and evolution of Xia\u2010Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa)"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8870-0575","authenticated-orcid":false,"given":"Gerrye","family":"Mubungu","sequence":"first","affiliation":[{"name":"Centre for Human Genetics, Faculty of Medicine University of Kinshasa  Kinshasa Congo"},{"name":"Institut National de Recherche Biom\u00e9dicale  Kinshasa Congo"},{"name":"Department of Pediatrics, Faculty of Medicine University of Kinshasa  Kinshasa Congo"},{"name":"Centre for Human Genetics University Hospital, University of Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prince","family":"Makay","sequence":"additional","affiliation":[{"name":"Centre for Human Genetics, Faculty of Medicine University of Kinshasa  Kinshasa Congo"},{"name":"Institut National de Recherche Biom\u00e9dicale  Kinshasa Congo"},{"name":"Department of Pediatrics, Faculty of Medicine University of Kinshasa  Kinshasa Congo"},{"name":"Centre for Human Genetics University Hospital, University of Leuven  Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bouchra","family":"Boujemla","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Humaine GIGA\u2010Research Institute, University of Li\u00e8ge  Li\u00e8ge Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephane","family":"Yanda","sequence":"additional","affiliation":[{"name":"Unit of Medical Imaging, Department of Internal medicine, Faculty of Medicine University of Kinshasa  Kinshasa Congo"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4814-6765","authenticated-orcid":false,"given":"Jennifer E.","family":"Posey","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James R.","family":"Lupski","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Human Genome Sequencing Center Baylor College of Medicine  Houston Texas USA"},{"name":"Department of Pediatrics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Bours","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Humaine GIGA\u2010Research Institute, University of Li\u00e8ge  Li\u00e8ge Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prosper","family":"Lukusa","sequence":"additional","affiliation":[{"name":"Institut National de Recherche Biom\u00e9dicale  Kinshasa Congo"},{"name":"Department of Pediatrics, Faculty of Medicine University of Kinshasa  Kinshasa Congo"},{"name":"Centre for Human Genetics University Hospital, University of Leuven  Leuven Belgium"},{"name":"Laboratoire de G\u00e9n\u00e9tique Humaine GIGA\u2010Research Institute, University of Li\u00e8ge  Li\u00e8ge Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koenraad","family":"Devriendt","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Humaine GIGA\u2010Research Institute, University of Li\u00e8ge  Li\u00e8ge Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5468-8678","authenticated-orcid":false,"given":"Aim\u00e9","family":"Lumaka","sequence":"additional","affiliation":[{"name":"Centre for Human Genetics, Faculty of Medicine University of Kinshasa  Kinshasa Congo"},{"name":"Institut National de Recherche Biom\u00e9dicale  Kinshasa Congo"},{"name":"Department of Pediatrics, Faculty of Medicine University of Kinshasa  Kinshasa Congo"},{"name":"Laboratoire de G\u00e9n\u00e9tique Humaine GIGA\u2010Research Institute, University of Li\u00e8ge  Li\u00e8ge Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,12,29]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.596"},{"issue":"3","key":"e_1_2_8_3_1","first-page":"257","article-title":"Syndromic intellectual disability caused by a novel truncating variant in AHDC1: A case report","volume":"44","author":"Diaz\u2010Ordonez L.","year":"2019","journal-title":"Iranian Journal of Medical Sciences"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.03.001"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2019.11.031"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38699"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40382"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40380"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.01.001"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.04.006"},{"issue":"1","key":"e_1_2_8_11_1","first-page":"a00056","article-title":"De novo truncating variants in the AHDC1 gene encoding the AT\u2010hook DNA\u2010binding motif\u2010containing protein 1 are associated with intellectual disability and developmental delay","volume":"1","author":"Yang H.","year":"2015","journal-title":"Cold Spring Harbor Molecular Case Studies"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62049","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62049","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62049","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T07:39:44Z","timestamp":1693640384000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62049"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,29]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1002\/ajmg.a.62049"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62049","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,12,29]]},"assertion":[{"value":"2020-10-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}