title: Identification of a CTL4/Neu1 fusion transcript in a sialidosis patient.
abstract: The deficiency of the lysosomal neuraminidase (NEU1; sialidase) causes the storage disorder sialidosis with symptoms ranging from eye abnormalities and neurological disturbances to skeletal malformations, mental retardation and early death. Sialidosis patients encompassing a wide spectrum of clinical symptoms were screened for mutations in neu1. We identified the same homozygous interstitial deletion (11 kb) in two patients causing the fusion of exon 10 of CTL4 (New Gene 22; NG22) with the 3'-UTR of neu1. In one patient we found the resulting CTL4/Neu1 fusion transcript, in the other we detected an alternatively spliced CTL4 transcript (retention of intron 9).
authors.affiliation: Department of Pathochemistry and Neurochemistry, University of Heidelberg, Im Neuenheimer Feld 220, D-69120 Heidelberg, Germany. johannes_uhl@med.uni-heidelberg.de
authors.forename: Johannes
authors.initials: J
authors.lastname: Uhl
authors.forename: Roland
authors.initials: R
authors.lastname: Penzel
authors.forename: Consolato
authors.initials: C
authors.lastname: Sergi
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kopitz
authors.forename: Herwart F
authors.initials: HF
authors.lastname: Otto
authors.forename: Michael
authors.initials: M
authors.lastname: Cantz
mesh_terms: D000069594:Abatacept; D000483:Alleles; D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics*; D019677:Artificial Gene Fusion; D060908:CTLA-4 Antigen; D002268:Carboxypeptidases / Q000235:genetics; D043402:Cathepsin A; D002478:Cells, Cultured; D002874:Chromosome Mapping; D005347:Fibroblasts / Q000166:cytology; D017353:Gene Deletion; D015870:Gene Expression; D006801:Humans; D018796:Immunoconjugates; D008247:Lysosomes; D009081:Mucolipidoses / Q000201:enzymology / Q000235:genetics*; D009439:Neuraminidase / Q000235:genetics* / Q000378:metabolism; D012333:RNA, Messenger; D014158:Transcription, Genetic; D001616:beta-Galactosidase / Q000378:metabolism
chemical_list: D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; D018796:Immunoconjugates; D012333:RNA, Messenger; D000069594:Abatacept; D009439:Neuraminidase; D001616:beta-Galactosidase; D002268:Carboxypeptidases; C468629:CTSA protein, human; D043402:Cathepsin A