- 作者：Shuang Liu ; Weimin Zhang ; Huiping Shi ; Yan Meng ; Zhengqing Qiu
- 关键词：A ; adenosine ; 伪 ; alpha ; bp ; base pair(s) ; 尾 ; beta ; C ; cytidine ; cDNA ; DNA complementary to RNA ; dNTP ; deoxyribonucleoside triphosphate ; G ; guanosine ; 纬 ; gamma ; GlcNAc-1-phosphotransferase ; N-acetylglucosamine-1-phosphotransferase ; GNPTAB ; gene encoding the alpha/beta subunit of the N-acetylglucosamine-1-phosphotransferase ; GNPTG ; gene encoding the gamma subunit of the N-acetylglucosamine-1-phosphotransferase ; kb ; kilobase(s) or 1000 ; bp ; kDa ; kilodalton(s) ; Km ; kanamycin ; MLIII ; mucolipid
- 刊名：Gene
- 出版年：10 February, 2014
- 年：2014
- 卷：535
- 期：2
- 页码：294-298
- 全文大小：714 K
Background
Mucolipidosis type III gamma (MLIII gamma) is an autosomal recessive disease caused by a mutation in the GNPTG gene, which encodes the 纬 subunit of the N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase). This protein plays a key role in the transport of lysosomal hydrolases to the lysosome.Methods
Three Chinese children with typical skeletal abnormalities of MLIII were identified, who were from unrelated consanguineous families. After obtaining informed consent, genomic DNA was isolated from the patients and their parents. Direct sequencing of the GNPTG and GNPTAB genes was performed using standard PCR reactions.
Results
The three probands showed clinical features typical of MLIII gamma, such as joint stiffness and vertebral scoliosis without coarsened facial features. Mutation analysis of the GNPTG gene showed that three novel mutations were identified, two in exon seven [c.425G>A (p.Cys142Val)] and [c.515dupC (p.His172Profs27X)], and one in exon eight [c.609+1G>C]. Their parents were determined to be heterozygous carriers when compared to the reference sequence in GenBank on NCBI.
Conclusions
Mutation of the GNPTG gene is the cause of MLIII gamma in our patients. Our findings expand the mutation spectrum of the GNPTG gene and extend the knowledge of the phenotype-genotype correlation of the disease.