TY - JOUR T1 - A novel homozygous frameshift mutation in the <em>FUCA1</em> gene causes both severe and mild fucosidosis JF - Journal of Clinical Pathology JO - J Clin Pathol DO - 10.1136/jclinpath-2018-205074 SP - jclinpath-2018-205074 AU - Nasrollah Saleh-Gohari AU - Kolsoum Saeidi AU - Roya Zeighaminejad Y1 - 2018/03/27 UR - http://jcp.bmj.com/content/early/2018/03/27/jclinpath-2018-205074.abstract N2 - Aims Fucosidosis is a rare autosomal recessive lysosomal storage disorder caused by α-L-fucosidase deficiency as a result of FUCA1 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 FUCA1 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. ER -