Ancient founder mutation is responsible for Imerslund-Grasbeck Syndrome among diverse ethnicities.

ABSTRACT:

Background

Imerslund-Gräsbeck syndrome (IGS) was described just over 50 years ago by Olga Imerslund and Ralph Gräsbeck and colleagues. IGS is caused by specific malabsorption of cobalamin (Cbl) due to bi-allelic mutations in either the cubilin gene (CUBN) or the human amnionless homolog (AMN). Mutations in the two genes are commonly seen in founder populations or in societies with a high degree of consanguineous marriages. One particular mutation in AMN, c.208-2A>G, causing an out-of-frame loss of exon 4 in the mRNA, is responsible for some 15% of IGS cases globally. We present evidence that this founder mutation causes a substantial percentage of cases among diverse ethnicities and that the mutation is as old as human civilization.

Methods

Partial genotyping indicated a fou

SUBMITTER: Beech CM 

PROVIDER: S-EPMC3226546 | biostudies-literature | 2011 Nov

REPOSITORIES: biostudies-literature