PubMed 25156245

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: TRP

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

Authors: 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

Journal, date & volume: Metab Brain Dis, 2015 Jun , 30, 681-6

PubMed link:

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.