Novel FOXG1 mutation in a patient with congenital Rett variant: a case report
- VernacularTitle:FOXG1基因新发突变致先天性Rett综合征 变异型一例报告
- Author:
Yan NIU
1
,
2
Author Information
1. Department of Rehabilitation,Tianjin Children&rsquo
2. s Hospital, Tianjin 300134, China
- Publication Type:Journal Article
- Keywords:
point mutation;
Rett syndrome;
FOXG1;
congenital variant;
clinical features
- From:
Tianjin Medical Journal
2018;46(8):873-877
- CountryChina
- Language:Chinese
-
Abstract:
Objective To summarize the clinical features of children with congenital Rett variant caused by mutation
of FOXG1 and provide the reference for the diagnosis and treatment of the disease. Methods The clinical data of a patient
diagnosed as congenital Rett syndrome variant type were summarized. The DNA samples of peripheral blood from the patient
and her parents were extracted. The targeted high-throughput sequencing technology was used to detect the sequence of
targeted genes, which were associated with the symptoms of the child. Genes were then verified by sanger sequencing.
Chromosomal microarray analysis was performed to detect chromosome microdeletions and microduplications. Results The
child carried the c.506dupG, p.G169Gfs＊ 286 heterozygous mutations on FOXG1 gene, which located in 14q12, and her
parents were wild-type. After querying the HGMD, Clinvar and dbSNP databases, we found that it was not reported. This
case was clearly diagnosed as congenital Rett syndrome variant type. We confirmed that the mutation locus was a new
mutation. Conclusion For cases with congenital Rett variant manifestations, FOXG1 gene mutation examination is
recommended, and preventive treatment of partially predictable dysfunction should be carried out.
