一个新的基因纯合移码突变导致严重和轻度岩藻糖血症。
A novel homozygous frameshift mutation in the gene causes both severe and mild fucosidosis.
机构信息
Department of Medical Genetics, Afzalipour School of Medicine, Kerman University of Medical Sciences, Kerman, Iran.
Neuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman, Iran.
出版信息
J Clin Pathol. 2018 Sep;71(9):821-824. doi: 10.1136/jclinpath-2018-205074. Epub 2018 Mar 27.
AIMS
Fucosidosis is a rare autosomal recessive lysosomal storage disorder caused by α-L-fucosidase deficiency as a result of gene mutations. Here, we studied clinical features and the molecular basis of fucosidosis in a family from Iran, including two probands and nine family members.
METHODS
DNA sample of two probands were screened for gene defects using a next generation sequencing technique. The sequencing processes were performed on an Illumina Hiseq 4000 platform. Sequence reads were analysed using BWA-GATK.
RESULTS
Next generation sequencing revealed a frameshift mutation caused by 2 bp deletion (c.837_838 delTG; p.Cys279) in the gene. The identified mutation was tested in all participants. Homozygous patients had almost all the complications associated with fucosidosis, while heterozygous carriers were unaffected.
CONCLUSIONS
The variant c.837_838 delTG; p.Cys279 has not been reported previously and is predicted to be pathogenic due to a premature stop codon.
目的
岩藻糖苷贮积症是一种罕见的常染色体隐性溶酶体贮积病，由α-L-岩藻糖苷酶缺乏引起，是基因突变的结果。本研究对来自伊朗的一个家系的岩藻糖苷贮积症的临床特征和分子基础进行了研究，该家系包括两个先证者和九个家族成员。
方法
使用下一代测序技术对两个先证者的 DNA 样本进行基因缺陷筛查。测序过程在 Illumina Hiseq 4000 平台上进行。使用 BWA-GATK 对序列进行分析。
结果
下一代测序显示，基因中 2bp 缺失（c.837_838delTG;p.Cys279）导致移码突变。鉴定出的突变在所有参与者中进行了测试。纯合子患者几乎都有与岩藻糖苷贮积症相关的所有并发症，而杂合子携带者则不受影响。
结论
该变体 c.837_838delTG;p.Cys279 以前未被报道，由于提前出现终止密码子，预测该变体是致病性的。
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