Clinical features and genetic analysis of a case with carnitine palmitoyltransferase 1A deficiency.
- Author:
Dong CUI
1
;
Yuhui HU
;
Dan SHEN
;
Gen TANG
;
Min ZHANG
;
Jing DUAN
;
Pengqiang WEN
;
Jianxiang LIAO
;
Dongli MA
;
Shuli CHEN
Author Information
- Publication Type:Case Reports
- MeSH: Base Sequence; Carnitine O-Palmitoyltransferase; deficiency; genetics; Exons; Female; Humans; Hypoglycemia; enzymology; genetics; Infant; Lipid Metabolism, Inborn Errors; enzymology; genetics; Male; Molecular Sequence Data; Point Mutation; Pregnancy
- From: Chinese Journal of Medical Genetics 2017;34(2):228-231
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the clinical and molecular features of a child with carnitine palmitoyltransferase 1A (CPT1A) deficiency.
METHODSClinical data of the child was collected. Blood acylcarnitine was determined with tandem mass spectrometry. DNA was extracted from the child and his parents. All exons and flanking regions of the CPT1A gene were analyzed by PCR and Sanger sequencing.
RESULTSAnalysis showed that the patient carried compound heterozygous mutations c.1787T>C and c.2201T>C of the CPT1A gene, which derived his father and mother, respectively. Both mutations were verified as novel through the retrieval of dbSNP, HGMD and 1000 genome databases. Bioinformatic analysis suggested that the mutations can affect protein function.
CONCLUSIONAcyl carnitine analysis has been the main method for the diagnosis of CPT1A deficiency. The c.1787T>C and c.2201T>C mutations of the CPT1A gene probably underlie the disease in this patient. Gene testing can provide important clues for genetic counseling and prenatal diagnosis.
