RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

ABSTRACT:

Background

Smith-Magenis syndrome (SMS) (OMIM No 182290) is a mental retardation syndrome characterised by behavioural abnormalities, including self injurious behaviours, sleep disturbance, and distinct craniofacial and skeletal anomalies. It is usually associated with deletion involving 17p11.2 and is estimated to occur in 1/25,000 births. Heterozygous frameshift mutations leading to protein truncation in retinoic acid induced 1 gene (RAI1) have been identified in individuals with phenotypic features consistent with SMS. RAI1 lies within the 17p11.2 locus, but these patients did not have 17p11.2 deletions.

Objective

Analysis of four individuals with features consistent with SMS for variations in RAI1, using a polymerase chain reaction and sequencing strategy. None of these

SUBMITTER: Girirajan S 

PROVIDER: S-EPMC1735950 | biostudies-literature | 2005 Nov

REPOSITORIES: biostudies-literature