Treatment and genetic analysis of a child with Kabuki syndrome type 2 and secondary pulmonary infection due to a de novo variant of KDM6A gene.
10.3760/cma.j.cn511374-20200507-00326
- Author:
Wei CHEN
1
;
Weiwei SUN
;
Wei SHEN
;
Haoquan ZHOU
Author Information
1. Department of Pediatrics, the First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui 230001, China. houhq2019@126.com.
- Publication Type:Journal Article
- MeSH:
Abnormalities, Multiple;
Child;
DNA-Binding Proteins/genetics*;
Face/abnormalities*;
Genetic Testing;
Hematologic Diseases;
Histone Demethylases/genetics*;
Humans;
Neoplasm Proteins/genetics*;
Nuclear Proteins/genetics*;
Phenotype;
Pneumonia;
Vestibular Diseases
- From:
Chinese Journal of Medical Genetics
2021;38(7):678-680
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis of a child with recurrent infection, multiple malformation and dysmorphism.
METHODS:The child and his parents were subjected to trio whole exome sequencing.
RESULTS:The child had a complaint of fever and cough, with long and thin eye fissures and long eyelashes. Genetic testing revealed that the child has carried a non-triplet deletion of the KDM6A gene, which was unreported previously. The variant resulted in frameshift and premature termination of the translation. His parents were both of the wild type for the locus. After antibiotic and immunoglobulin treatment, the severe secondary pneumonia caused by immunodeficiency has improved.
CONCLUSION:With combined laboratory test, imaging examination and genetic testing, the child was ultimately diagnosed with Kabuki syndrome type 2. The characteristics of immunodeficiency of Kabuki syndrome may render conventional antibiotic treatment ineffective, which deserves clinical attention.
