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

Marisol Mirabelli-Badenier, Mariasavina Severino, Barbara Tappino, Domenico Tortora, Francesca Camia, Clelia Zanaboni, Fabia Brera, Enrico Priolo, Andrea Rossi, Roberta Biancheri, Maja Di Rocco, Mirella Filocamo

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)681-686
Number of pages6
JournalMetabolic Brain Disease
Volume30
Issue number3
DOIs
Publication statusPublished - Jun 1 2015

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Keywords

  • Brain MRI
  • Diffusion tensor imaging
  • Lysosomal disorder
  • Mucolipin 1 double mutant allele
  • Tractography
  • Transient receptor potential cation channel

ASJC Scopus subject areas

  • Clinical Neurology
  • Biochemistry
  • Cellular and Molecular Neuroscience

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