[Clinical analysis of a child with cardio-facio-cutaneous syndrome due to a de novo variant of MAP2K1 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(10): 1129-1134, 2022 Oct 10.
Article
en Zh
| MEDLINE
| ID: mdl-36184098
ABSTRACT
OBJECTIVE:
To explore the genotype-phenotype correlation of a patient with cardio-facio-cutaneous syndrome (CFCS) due to variant of the MAP2K1 gene.METHODS:
DNA was extracted from peripheral blood samples of the infant and his parents and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.RESULTS:
The patient had typical CFCS facies and developmental delay, and was found to harbor a de novo heterozygous c.389A>G (p.Tyr130Cys) missense variant in exon 3 of the MAP2K1 gene. Based on the American college of Medical Genetics and Genomics guidelines, this variant was classified as likely pathogenic.CONCLUSION:
This patient has differed from previously reported cases by having no cardiac anomaly or seizures but typical facial features and skin abnormalities accompanied by growth retardation, intellectual impairment, and urinary malformation. It has therefore enriched the phenotypic spectrum of CFCS due to variants of the MAP2K1 gene.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Displasia Ectodérmica
Límite:
Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2022
Tipo del documento:
Article
País de afiliación:
China