Exon deletion in the non-catalytic domain of eIF2Bepsilon due to a splice site mutation leads to infantile forms of CACH/VWM with severe decrease of eIF2B GEF activity.

Abstract:

:The CACH/VWM syndrome is an autosomal recessive leukodystrophy characterized by a broad spectrum of clinical presentations and by diffuse cavitary degeneration of the white matter on MRI. Mutations responsible for this disorder are missense or frameshift mutations occurring in the five genes (EIF2B1-5) that encode the translation eukaryotic initiation factor eIF2B. We found that a patient with infantile CACH/VWM carries a mutation in the acceptor splice site of EIF2B5 exon 6. In lymphoblastoid cells of the patient, we detected an abnormal EIF2B5 transcript in which exon 6 was absent, however, the predicted protein product lacking part of the non-catalytic domain encoded by exon 6 was not detected. The eIF2B GEF activity was severely decreased. These data support the importance of the non-catalytic domain of the eIF2Bepsilon subunit in the eIF2B complex formation and activity.

journal_name

Ann Hum Genet

journal_title

Annals of human genetics

authors

Horzinski L,Gonthier C,Rodriguez D,Scherer C,Boespflug-Tanguy O,Fogli A

doi

10.1111/j.1469-1809.2007.00427.x

subject

Has Abstract

pub_date

2008-05-01 00:00:00

pages

410-5

issue

Pt 3

eissn

0003-4800

issn

1469-1809

pii

AHG427

journal_volume

72

pub_type

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