A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.
Metab Brain Dis
; 30(3): 681-6, 2015 Jun.
Article
em En
| MEDLINE
| ID: mdl-25156245
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
População Branca
/
Alelos
/
Canais de Potencial de Receptor Transitório
/
Mucolipidoses
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child, preschool
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
Metab Brain Dis
Assunto da revista:
CEREBRO
/
METABOLISMO
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Itália