Identification of a de novo MAP2K1 gene variant in an affected patient with Cardio-facio-cutaneous syndrome.
10.3760/cma.j.issn.1003-9406.2020.05.018
- Author:
Qingming WANG
1
;
Pengliang CHEN
;
Qian PENG
;
Jianxin LIU
;
Yuling HUANG
;
Zhihong TANG
;
Yanhui LIU
;
Haiming YUAN
Author Information
1. Dongguan Maternal and Child Health Care Hospital, Dongguan, Guangdong 523120, China. haimingyuan@sina.cn.
- Publication Type:Case Reports
- MeSH:
China;
Ectodermal Dysplasia;
genetics;
Facies;
Failure to Thrive;
genetics;
Genetic Association Studies;
Genetic Variation;
Heart Defects, Congenital;
genetics;
Heterozygote;
Humans;
Infant;
MAP Kinase Kinase 1;
genetics;
Male;
Mutation;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2020;37(5):567-569
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genotype-phenotype correlation of Cardio-facio-cutaneous syndrome (CFCS) caused by MAP2K1 gene variants.
METHODS:Genomic DNA was extracted from peripheral blood sample from a child patient and his parents. Whole exome sequencing (WES) was carried out for the patient. Suspected variant was verified by Sanger sequencing.
RESULTS:The patient was a 1-year-8-month old Chinese male who manifested short stature, psychomotor retardation, relative macrocephaly, distinctive facial features, and congenital heart disease. WES test revealed a heterozygous missense c.389A>G (p.Tyr130Cys) variant in the MAP2K1 gene. Sanger sequencing has confirmed the variant as de novo. According to ACMG/AMP guidelines, the variant was classified as pathogenic.
CONCLUSION:Compared with previously reported CFCS cases due to MAP2K1 variants. The patient showed obvious behavioral problems, good appetite and tricuspid regurgitation, which may to be novel features for CFCS.
