A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child

Metab Brain Dis. 2015 Jun;30(3):681-6. doi: 10.1007/s11011-014-9612-6. Epub 2014 Aug 26.

Abstract

Mucolipidosis type IV (MLIV) is a very rare disorder of late endosome/lysosome transport, characterized by neurodevelopmental abnormalities and progressive visual impairment owing to corneal clouding and retinal dystrophy. Greater than 70 % of MLIV patients are of Ashkenazi Jewish ancestry. Here we report a novel MCOLN1double mutant allele [c.395_397delCTG;c.468_474dupTTGGACC] which introduces a premature stop codon [p.Ala132del; p.Asn159LeufsX27] leading to almost complete abrogation of the region coding mucolipin-1, a member of the transient receptor potential (TRP) cation channel family. The genomic lesion was identified in homozygous state, in a non-Jewish Italian MLIV patient, who also presented abnormal serum gastrin levels. Conventional and advanced MRI sequences, including diffusion tensor imaging and tractography, were used for the assessment of white matter involvement in the patient.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Child, Preschool
  • Homozygote
  • Humans
  • Italy
  • Male
  • Mucolipidoses / diagnosis
  • Mucolipidoses / genetics*
  • Mutation / genetics*
  • Transient Receptor Potential Channels / deficiency
  • Transient Receptor Potential Channels / genetics*
  • White People / genetics*

Substances

  • MCOLN1 protein, human
  • Transient Receptor Potential Channels