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An activated 5′ cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense‐mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG‐Id)
Author(s) -
Denecke Jonas,
Kranz Christian,
Kemming Dirk,
Koch HansGeorg,
Marquardt Thorsten
Publication year - 2004
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20026
Subject(s) - nonsense mediated decay , biology , splice , gene , rna splicing , exon , genetics , splice site mutation , stop codon , microbiology and biotechnology , nonsense mutation , mutation , alternative splicing , rna , missense mutation
A defect of the dolichyl‐P‐Man:Man5GlcNAc2‐PP‐dolichyl mannosyltransferase encoded by the ALG3 gene (alias NOT56L ) causes congenital disorder of glycosylation type Id (CDG‐Id). In this work, a new mutation in the ALG3 gene causing atypical splicing is described with characterization of expression levels and transcript stabilities of the different splice products. A silent mutation in exon 1 of the ALG3 gene (c.165C