Identification of a CTL4/Neu1 fusion transcript in a sialidosis patient

FEBS Letters

Otto, Herwart F²  Kopitz, Jürgen¹  Penzel, Roland²  Uhl, Johannes¹  Cantz, Michael¹  Sergi, Consolato² 

[1] Department of Pathochemistry and Neurochemistry, University of Heidelberg, Im Neuenheimer Feld 220, D-69120 Heidelberg, Germany;Institute of Pathology, University of Heidelberg, Im Neuenheimer Feld 220, D-69120 Heidelberg, Germany

关键词: Lysosomal neuraminidase;    Interstitial deletion;    Fusion transcript;    CTL4 (NG22);    Sialidosis;   

DOI  :  10.1016/S0014-5793(02)02748-5

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

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).

【 授权许可】

Unknown