{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T08:55:28Z","timestamp":1769244928091,"version":"3.49.0"},"reference-count":15,"publisher":"King Faisal Specialist Hospital and Research Centre","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ann Saudi Med"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n          <jats:p>\n            Rett syndrome (RTT) is a severe progressive neurodevelopmental disease characterized by psychomotor regression. The\n            <jats:italic>FOXG1<\/jats:italic>\n            gene is one of the pathogenic genes associated with the congenital Rett variant, which is less studied. Only a few Chinese patients with\n            <jats:italic>FOXG1<\/jats:italic>\n            mutation have been reported. In this study, we describe a Chinese female patient with congenital Rett variant who presented with psycho-motor retardation, developmental regression, microcephaly, seizure, stereotypic hand movement and hypotonia. Targeted high-throughput sequencing was conducted, and a heterozygous\n            <jats:italic>FOXG1<\/jats:italic>\n            mutation [NM_005249.4: c.506dupG (P.G169Gfs* 286)] was identified. It was a frameshift mutation resulting in alteration of the reading frames downstream of the mutation.\n          <\/jats:p>\n          <jats:sec>\n            <jats:title>SIMILAR CASES PUBLISHED:<\/jats:title>\n            <jats:p>10.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>CONFLICT OF INTEREST:<\/jats:title>\n            <jats:p>None.<\/jats:p>\n          <\/jats:sec>","DOI":"10.5144\/0256-4947.2020.347","type":"journal-article","created":{"date-parts":[[2020,8,6]],"date-time":"2020-08-06T16:39:28Z","timestamp":1596731968000},"page":"347-353","source":"Crossref","is-referenced-by-count":4,"title":["A case of congenital Rett variant in a Chinese patient caused by a\n            <i>FOXG1<\/i>\n            mutation"],"prefix":"10.5144","volume":"40","author":[{"given":"Yan","family":"Niu","sequence":"first","affiliation":[{"name":"From the Department of Rehabilitation, Tianjin Children's Hospital, Tianjin, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lirong","family":"Cao","sequence":"additional","affiliation":[{"name":"From the Affiliated Hospital of Hebei University, Hebei, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peng","family":"Zhao","sequence":"additional","affiliation":[{"name":"From the Department of Rehabilitation, Tianjin Children's Hospital, Tianjin, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7265-9387","authenticated-orcid":true,"given":"Chunquan","family":"Cai","sequence":"additional","affiliation":[{"name":"From the Department of Neurosurgery, Tianjin Children's Hospital, Tianjin, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3134","reference":[{"key":"e_1_3_1_2_2","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1002\/ana.22124","article-title":"Rett syndrome: revised diagnostic criteria and 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Genet"},{"issue":"6","key":"e_1_3_1_12_2","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1111\/j.1399-0004.2011.01819.x","article-title":"FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome","volume":"82","author":"Takahashi S","year":"2012","journal-title":"Clin Genet"},{"issue":"1","key":"e_1_3_1_13_2","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1136\/jmg.2009.067355","article-title":"Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females","volume":"47","author":"Philippe C","year":"2010","journal-title":"J Med Genet"},{"issue":"2","key":"e_1_3_1_14_2","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1007\/s10048-009-0220-2","article-title":"Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant","volume":"11","author":"Bahi-Buisson N","year":"2010","journal-title":"Neurogenetics"},{"issue":"1","key":"e_1_3_1_15_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10048-010-0255-4","article-title":"A FOXG1 mutation in a boy with congenital variant of Rett syndrome","volume":"12","author":"Le Guen T","year":"2011","journal-title":"Neurogenetics"},{"issue":"12","key":"e_1_3_1_16_2","doi-asserted-by":"crossref","first-page":"2067","DOI":"10.1111\/j.1528-1167.2012.03656.x","article-title":"Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies","volume":"53","author":"Guerrini R","year":"2012","journal-title":"Epilepsia"}],"container-title":["Annals of Saudi 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