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Annals of Saudi medicine · Jul 2020
Case ReportsA case of congenital Rett variant in a Chinese patient caused by a FOXG1 mutation.
- Yan Niu, Lirong Cao, Peng Zhao, and Chunguan Cai.
- From the Department of Rehabilitation, Tianjin Children's Hospital, Tianjin, China.
- Ann Saudi Med. 2020 Jul 1; 40 (4): 347353347-353.
AbstractRett syndrome (RTT) is a severe progressive neurodevelopmental disease characterized by psychomotor regression. The FOXG1 gene is one of the pathogenic genes associated with the congenital Rett variant, which is less studied. Only a few Chinese patients with FOXG1 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 FOXG1 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. SIMILAR CASES PUBLISHED: 10. CONFLICT OF INTEREST: None.
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