黏多糖贮积症IVA：一名患有典型Morquio病的阿富汗女孩中，N-乙酰半乳糖胺-6-硫酸酯硫酸酯酶基因第4内含子出现新型剪接受体位点突变。

Mucopolysaccharidosis IVA: a novel splice acceptor site mutation in intron 4 of the N-acetylgalactosamine-6-sulfate sulfatase gene in an Afghanistan girl with classical Morquio disease.

作者信息

Fukuda S, Yamada N, Tomatsu S, Sukegawa K, Montaño A M, Hopwood J J, Muller V, Orii T, Kondo N

机构信息

Department of Pediatrics, Gifu University, School of Medicine, Japan.

出版信息

Jpn J Hum Genet. 1997 Jun;42(2):317-22. doi: 10.1007/BF02766953.

DOI:10.1007/BF02766953

PMID:9290256

Abstract

We report here a novel splice site mutation in intron 4 of the gene for N-acetylgalactosamine-6-sulfate sulfatase (GALNS) in an Afghanistan girl with severe mucopolysaccharidosis IVA (classical Morquio disease). Direct sequencing revealed a homozygous G to A transition in the conserved splice acceptor site in intron 4 (cagG-->caaG: designated IVS 4(-I) G-->A) which eliminates 144 nucleotides of exon 5 in her GALNS transcript and introduces an immediate premature termination codon (at Trp 141 of exon 4). The IVS 4(-1) G-->A has not been seen in other populations and this is the first report of the molecular basis of classical Morquio disease in an Afghanistan patient.

摘要

我们在此报告，一名患有严重IV型黏多糖贮积症（经典型莫尔基奥氏病）的阿富汗女孩，其N-乙酰半乳糖胺-6-硫酸酯酶（GALNS）基因内含子4发生了一种新的剪接位点突变。直接测序显示，内含子4保守剪接受体位点存在纯合的G到A转换（cagG-->caaG：命名为IVS 4(-I) G-->A），这使得她的GALNS转录本中外显子5的144个核苷酸缺失，并在紧邻位置引入了一个过早的终止密码子（在外显子4的Trp 141处）。IVS 4(-1) G-->A在其他人群中尚未见报道，这是关于阿富汗患者经典型莫尔基奥氏病分子基础的首次报告。