Premium
Identification of a CTL4 / Neu1 fusion transcript in a sialidosis patient
Author(s) -
Uhl Johannes,
Penzel Roland,
Sergi Consolato,
Kopitz Jürgen,
Otto Herwart F,
Cantz Michael
Publication year - 2002
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/s0014-5793(02)02748-5
Subject(s) - exon , sialidase , microbiology and biotechnology , neuraminidase , fusion gene , biology , gene , medicine , virology , genetics , virus
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).