Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review.
10.7499/j.issn.1008-8830.2502003
- Author:
Cui-Yun LI
1
;
Ying XU
1
;
Ru-En YAO
1
;
Ying YU
1
;
Xue-Ting CHEN
1
;
Wei LI
1
;
Hui ZENG
1
;
Li-Ting CHEN
1
Author Information
1. Department of Medical Genetics and Antental Diagonsis Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Sanya, Hainan 572000, China.
- Publication Type:English Abstract
- Keywords:
19p13.3 microdeletion;
Cardiofaciocutaneous syndrome;
Child;
MAP2K2 gene;
Targeted gene sequencing technology
- MeSH:
Humans;
Chromosome Deletion;
Chromosomes, Human, Pair 19/genetics*;
Ectodermal Dysplasia/genetics*;
Facies;
Failure to Thrive/genetics*;
Heart Defects, Congenital/genetics*
- From:
Chinese Journal of Contemporary Pediatrics
2025;27(7):854-858
- CountryChina
- Language:Chinese
-
Abstract:
This article reports a child with cardioaciocutaneous syndrome (CFCS) caused by a rare microdeletion of chromosome 19p13.3, and a literature review is conducted. The child had unusual facies, short stature, delayed mental and motor development, macrocephaly, and cardiac abnormalities. Whole-exome sequencing identified a 1 040 kb heterozygous deletion in the 19p13.3 region of the child, which was rated as a "pathogenic variant". This is the first case of CFCS caused by a loss-of-function mutation reported in China, which enriches the genotype characteristics of CFCS. It is imperative to enhance the understanding of CFCS in children. Early identification based on its clinical manifestations should be pursued, and genetic testing should be performed to facilitate diagnosis.
