Article Text

PDF
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. 1Department of Medical Genetics, Afzalipour School of Medicine, Kerman University of Medical Sciences, Kerman, Iran
  2. 2Neuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman, Iran
  3. 3Genetics 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

Statistics from Altmetric.com

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.

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.