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

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2 Citations (Scopus)

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

Fingerprint

Mucolipidoses
Diffusion tensor imaging
Transient Receptor Potential Channels
Gastrins
Ablation
Magnetic resonance imaging
Alleles
Retinal Dystrophies
Diffusion Tensor Imaging
Nonsense Codon
Endosomes
Vision Disorders
Lysosomes
Serum

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

Cite this

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title = "A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child",
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.",
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author = "Marisol Mirabelli-Badenier and Mariasavina Severino and Barbara Tappino and Domenico Tortora and Francesca Camia and Clelia Zanaboni and Fabia Brera and Enrico Priolo and Andrea Rossi and Roberta Biancheri and {Di Rocco}, Maja and Mirella Filocamo",
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T1 - A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child

AU - Mirabelli-Badenier, Marisol

AU - Severino, Mariasavina

AU - Tappino, Barbara

AU - Tortora, Domenico

AU - Camia, Francesca

AU - Zanaboni, Clelia

AU - Brera, Fabia

AU - Priolo, Enrico

AU - Rossi, Andrea

AU - Biancheri, Roberta

AU - Di Rocco, Maja

AU - Filocamo, Mirella

PY - 2015/6/1

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N2 - 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.

AB - 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.

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KW - Diffusion tensor imaging

KW - Lysosomal disorder

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KW - Transient receptor potential cation channel

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