Analysis of child with pyruvate carboxylase deficiency type A due to compound heterozygous variants of the PC gene.
10.3760/cma.j.cn511374-20210719-00606
- VernacularTitle:一例
PC基因复合杂合变异所致丙酮酸羧化酶缺乏症A型患儿的分析
- Author:
Xiaoling ZHAO
1
;
Jie DING
;
Danqun JIN
Author Information
1. Department of Intensive Care Unit, Anhui Provincial Children's Hospital, Hefei, Anhui 230051, China. jindq69@163.com.
- Publication Type:Journal Article
- MeSH:
Child;
Family;
Humans;
Male;
Mutation;
Pyruvate Carboxylase Deficiency Disease;
Retrospective Studies;
Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2022;39(9):996-1000
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical features and genetic basis for a child with pyruvate carboxylase deficiency type A (PCD-A).
METHODS:Clinical data of the child was retrospectively analyzed. The child and his parents were subjected to trio-whole exome sequencing, and candidate variants were verified by bioinformatics analysis.
RESULTS:The child was admitted due to fever with vomiting and disturbance of consciousness. His clinical manifestations included severe decompensated acidosis, hypotension and intractable shock. Cranial MRI showed abnormal signal in the brain, and chest X-ray revealed acute pulmonary edema. DNA sequencing revealed that he has harbored compound heterozygous variants of the PC gene, namely c.182T>C (p.I61T) and c.2581G>A (p.V861M), which were respectively inherited from his father and mother. Neither variant was retrievable in the ClinVar and HGMD databases. Through prediction of protein structure, both variants may affect the functional stability of the protein product.
CONCLUSION:The compound heterozygous variants of the PC gene probably underlay the PCD-A in this child. Combined with the clinical features, the child was ultimately diagnosed as PCD-A. Above finding has enriched the spectrum of PC gene variation underlying PCD-A.
