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Original article
A novel homozygous frameshift mutation in the FUCA1 gene causes both severe and mild fucosidosis
  1. Nasrollah Saleh-Gohari1,
  2. Kolsoum Saeidi2,
  3. Roya Zeighaminejad3
  1. 1 Department of Medical Genetics, Afzalipour School of Medicine, Kerman University of Medical Sciences, Kerman, Iran
  2. 2 Neuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman, Iran
  3. 3 Genetics Laboratory, Samen-al-Hojaj Charity, Kerman, Iran
  1. Correspondence to Dr Kolsoum Saeidi, Afzalipour School of Medicine, Kerman University of Medical Sciences, Kerman 7616913555, Iran; kolsoum.saeidi{at}gmail.com

Abstract

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.

  • brain
  • Dna
  • chromosomes
  • genetics

https://doi.org/10.1136/jclinpath-2018-205074

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    Footnotes

    • Handling editor Runjan Chetty.

    • Contributors NS-G, KS and RZ contributed to the design of the study, performing the experiments, analysing the data, and writing the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent Obtained.

    • Ethics approval Afzalipour Medical School, Kerman University of Medical Sciences.

    • Provenance and peer review Not commissioned; internally peer reviewed.