Cardio - facio - cutaneous syndrome with BRAF gene mutation: A case report and literature review

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Apr 28;46(4):432-437. doi: 10.11817/j.issn.1672-7347.2021.190756.
[Article in English, Chinese]

Abstract
in English, Chinese

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.

心-面-皮肤(cardio-facio-cutaneous，CFC)综合征是一种极其罕见的常染色体显性遗传病。患者的主要特征为颅面部畸形、心脏畸形、皮肤异常、语言和运动发育迟缓、胃肠道功能障碍、智力障碍及癫痫。本例患儿具有典型的CFC综合征面容以及发育迟滞。二代测序技术结果显示：患儿BRAF(NM_004333.5)基因14号外显子上存在1个突变位点c.1741A>G(p. Asn581Asp)(杂合)，其父母均未发现上述变异，该变异可能为新生突变。本病尚没有特效的治疗方法。.

Keywords: BRAF gene; cardio-facio-cutaneous syndrome; mutation.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple*
  • Child
  • Ectodermal Dysplasia* / genetics
  • Facies
  • Failure to Thrive
  • Heart Defects, Congenital* / genetics
  • Humans
  • Mutation
  • Proto-Oncogene Proteins B-raf / genetics

Substances

  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf

Supplementary concepts

  • Cardiofaciocutaneous syndrome