A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation.

ABSTRACT:

Background

Identifying the genetic factors that contribute to memory and learning is limited by the complexity of brain development and the lack of suitable human models for mild disorders of cognition.

Methods

Previously, a disease locus was mapped for a mild type of nonsyndromic mental retardation (IQ between 50 and 70) to a 4.2-MB interval on chromosome 3p25-pter in a large kindred. The genes and transcripts within the candidate region were systematically analyzed for mutations by single-strand polymorphism analysis and DNA sequencing.

Results

A nonsense mutation causing a premature stop codon in a novel gene (cereblon; CRBN) was identified that encodes for an ATP-dependent Lon protease. The predicted protein sequence is highly conserved across species, and it belo

SUBMITTER: Higgins JJ 

PROVIDER: S-EPMC1201536 | biostudies-literature | 2004 Nov

REPOSITORIES: biostudies-literature