1.Gene variant analysis of a patient with multiple carboxylase deficiency.
Xuesha XING ; Shuang LIU ; Ping LUO ; Fang LI ; Yuhong WU ; Shusen WANG ; Hongwei MA ; Yang LUO
Chinese Journal of Medical Genetics 2020;37(4):419-422
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.
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
2.Analysis of RS1 gene variant in a Chinese pedigree affected with X-linked congenital retinal splitters.
Ping LUO ; Qiuyan LIU ; Xuesha XING ; Qi LIU ; Yang LUO
Chinese Journal of Medical Genetics 2022;39(4):378-382
OBJECTIVE:
To explore the genetic basis for a Chinese pedigree affected with X-linked retinoschisis.
METHODS:
Clinical data of the pedigree was collected. Following DNA extraction, PCR and Sanger sequencing were carried out to detect potential variant in the RS1 gene. The result was verified by using PCR and restriction fragment length polymorphism assay.
RESULTS:
All male patients were found to harbor a c.458T>G (p.Val153Gly) variant of the RS1 gene, for which Their mothers were heterozygous carriers. The same variant was not detected among unaffected members of the pedigree as well as 100 healthy controls. Bioinformatic analysis suggested the variant to be pathogenic.
CONCLUSION
The c.458T>G (p.Val153Gly) variant of the RS1 gene probably underlay the X-linked retinoschisis in this pedigree.
China
;
Eye Proteins/genetics*
;
Genes, X-Linked
;
Humans
;
Male
;
Mutation
;
Pedigree
;
Retinoschisis/pathology*
Result Analysis
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