Cardio
10.11817/j.issn.1672-7347.2021.190756
- Author:
Baiyu CHEN
1
,
2
;
Shimeng CHEN
1
,
3
;
Juan XIONG
1
,
3
;
Fei YIN
1
,
4
Author Information
1. Department of Pediatrics, Xiangya Hospital, Central South University
2. Research Center of Children Intellectual Disability of Hunan Province, Changsha 410008, China. 1814304015@qq.com.
3. Research Center of Children Intellectual Disability of Hunan Province, Changsha 410008, China.
4. Research Center of Children Intellectual Disability of Hunan Province, Changsha 410008, China. yf2323@hotmail.com.
- Publication Type:Review
- Keywords:
BRAF gene;
cardio-facio-cutaneous syndrome;
mutation
- MeSH:
Abnormalities, Multiple;
Child;
Ectodermal Dysplasia/genetics*;
Facies;
Failure to Thrive;
Heart Defects, Congenital/genetics*;
Humans;
Mutation;
Proto-Oncogene Proteins B-raf/genetics*
- From:
Journal of Central South University(Medical Sciences)
2021;46(4):432-437
- CountryChina
- Language:English
-
Abstract:
Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. The main characteristics of the patients are craniofacial deformities, cardiac malformations, skin abnormalities, delay of language and motor development, gastrointestinal dysfunction, intellectual disability, and epilepsy. In this case, the child has a typical CFC syndrome face and developmental delay. The gene results of the second-generation sequencing technology showed that there was a mutation site c.1741A>G (p. Asn581Asp) (heterozygous) in exon 14 of the BRAF (NM_004333.5) gene. The mutation was not observed in the child's parents. The above-mentioned mutation may be a de novo mutation. There is no effective therapy for this disease so far.
