Clinical and genetic analysis of two pedigree affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene
10.3760/cma.j.cn511374-20220721-00482
- VernacularTitle:SLC25A20基因变异致肉碱-酰基肉碱转位酶缺乏症2例新生儿的临床及遗传学分析
- Author:
Qinghua ZHANG
1
;
Xuan FENG
;
Xing WANG
;
Furong LIU
;
Bingbo ZHOU
;
Chuan ZHANG
;
Yupei WANG
;
Jingyun SHI
;
Shengju HAO
;
Ling HUI
;
Bin YI
Author Information
1. 甘肃省妇幼保健院（甘肃省中心医院）医学遗传中心，兰州 730050
- Keywords:
Carnitine-acylcarnitine translocase deficiency;
SLC25A20 gene;
Trio-whole exome sequencing;
Novel variant
- From:
Chinese Journal of Medical Genetics
2024;41(4):467-472
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical phenotype and genotypes of two children with Carnitine-acylcarnitine translocase deficiency (CACTD).Methods:Two children diagnosed with CACTD at the Gansu Provincial Maternal and Child Health Care Hospital respectively on January 3 and November 19, 2018 were selected as the study subjects. Trio-whole exome sequencing (trio-WES) was carried out, and candidate variants were validated through Sanger sequencing and pathogenicity analysis.Results:Both children were males and had manifested mainly with hypoglycemia. Trio-WES and Sanger sequencing showed that child 1 had harbored compound heterozygous variants of the SLC25A20 gene, namely c. 49G>C (p.Gly17Arg) and c. 106-2A>G, which were inherited from his father and mother, respectively. Child 2 had harbored homozygous c. 199-10T>G variants of the SLC25A20 gene, which were inherited from both of his parents. Among these, the c. 106-2A>G and c. 49G>C variants were unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c. 49G>C (p.Gly17Arg), c. 106-2A>G, and c. 199-10T>G variants were classified as likely pathogenic (PM2_supporting+ PP3+ PM3_strong+ PP4), pathogenic (PVS1+ PM2_supporting+ PM5+ PP3), and pathogenic (PVS1+ PM2_supporting+ PP3+ PP5), respectively. Conclusion:Combined with their clinical phenotype and genetic analysis, both children were diagnosed with CACTD. Above finding has provided a basis for their treatment as well as genetic counseling and prenatal diagnosis for their families.
