Clinical features and genetic variants of a case with carnitine palmitoyltransferase 1A deficiency
10.3760/cma.j.cn511374-20210319-00251
- VernacularTitle:一例肉碱棕榈酰转移酶1A缺乏症患儿的临床特征和基因变异分析
- Author:
Dongyang HONG
1
;
Yanyun WANG
;
Yun SUN
;
Dingyuan MA
;
Wei CHENG
;
Tao JIANG
Author Information
1. 南京医科大学附属妇产医院（南京市妇幼保健院）遗传医学中心，南京 210004
- Keywords:
Carnitine palmitoyltransferase 1A deficiency;
Tandem mass spectrometry;
CPT1A gene;
Genetic variant
- From:
Chinese Journal of Medical Genetics
2022;39(7):739-742
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To identify the possible pathogenesis of a neonate with carnitine palmitoyltransferase 1A (CPT1A) deficiency by analyzing genetic variants.Methods:Potential variants were detected with an Ion Torrent semiconductor sequencer using a gene panel for inherited diseases, and candidate variants were verified by Sanger sequencing.Results:Genetic testing indicated that the neonate has carried c. 1895T>A(p.Leu632X) and c. 1153G>A(p.Ala385Thr) compound heterozygous variants of the CPT1A gene, which were inherited from his father and mother, respectively. Both variants were verified as novel through the retrieval of HGMD database, ClinVar database and literature. According to the standards and guidelines of the American College of Medical Genetics and Genomics, the c. 1895T>A variant was predicted as pathogenic(PVS1+ PM2+ PP4) and c. 1153G>A as likely pathogenic (PM1+ PM2+ PM3+ PP3). Conclusion:The c. 1895T>A and c. 1153G>A compound heterozygous variants of the CPT1A gene might underlie the pathogenesis in this child. Above results have provided a basis for clinical diagnosis and genetic counseling, and enriched the variant spectrum of the CPT1 deficiency.
