Cardio-facio-cutaneous syndrome with BRAF gene mutation: A case report and literature review. / BRAFåºå çªåæè´å¿-é¢-ç®è¤ç»¼åå¾1ä¾å¹¶æç®å¤ä¹ .
Zhong Nan Da Xue Xue Bao Yi Xue Ban
; 46(4): 432-437, 2021 Apr 28.
Article
in En, Zh
| MEDLINE
| ID: mdl-33967092
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
/
Ectodermal Dysplasia
/
Heart Defects, Congenital
Limits:
Child
/
Humans
Language:
En
/
Zh
Journal:
Zhong Nan Da Xue Xue Bao Yi Xue Ban
Journal subject:
MEDICINA
Year:
2021
Document type:
Article
Affiliation country: