Gene variant analysis of a patient with multiple carboxylase deficiency.
10.3760/cma.j.issn.1003-9406.2020.04.013
- Author:
Xuesha XING
1
;
Shuang LIU
;
Ping LUO
;
Fang LI
;
Yuhong WU
;
Shusen WANG
;
Hongwei MA
;
Yang LUO
Author Information
1. Department of Medical Genomics, Key Laboratory of Medical Cell Biology of the Ministry of Education, School of Life Science, China Medical University, Shenyang, Liaoning 110122, China. yluo@cmu.edu.cn.
- Publication Type:Case Reports
- MeSH:
Carbon-Nitrogen Ligases;
genetics;
Exons;
Female;
Humans;
Multiple Carboxylase Deficiency;
genetics;
Mutation;
Open Reading Frames;
Polymerase Chain Reaction;
Polymorphism, Restriction Fragment Length;
Sequence Analysis, DNA
- From:
Chinese Journal of Medical Genetics
2020;37(4):419-422
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a patient featuring multiple carboxylase deficiency (MCD).
METHODS:PCR and Sanger sequencing were used to detect variant in the coding region of BT and HLCS genes in the patient. Suspected variants were verified in her parents and 80 unrelated healthy controls by a PCR-restriction fragment length polymorphism (PCR-RFLP) method.
RESULTS:The patient was found to carry compound heterozygous variants of the HLCS gene, namely c.286delG (p.Val96Leufs*162) and c.1648G>A (p.Val550Met). The c.286delG (p.Val96Leufs*162) was verified to be novel variant based on the result of PCR-RFLP analysis. No variant was found in the coding regions of BT gene in the patient.
CONCLUSION:The compound c.286delG (p.Val96Leufs*162) and c.1648G>A (p.Val550Met) variants probably underlie the MCD disorder in this patient. Above results have enriched the variant spectrum of MCA.
