Mutational analysis of the neuronal cadherin gene CELSR1 and exclusion as a candidate for catatonic schizophrenia in a large family.

Abstract

The cadherin gene CELSR1 is specifically expressed in the brain and located on chromosome 22q13.33, a region that has recently been shown to be involved in the etiopathogenesis of familial catatonic schizophrenia. The gene is a strong positional candidate and was considered for mutational analysis. A total of 17 allelic variants of CELSR1 was found by sequencing all 35 exons, intron-exon junctions, and the putative promoter region by screening two patients from a large family mainly supporting this locus, and three control subjects in a first step. No variant exclusively co-segregates with the disease in the large pedigree, providing evidence that CELSR1 is not causative for the pathogenesis of catatonic schizophrenia in this family.

• Authors: J Gross, O Grimm, G Ortega, I Teuber, K P Lesch, J Meyer
• Journal: Psychiatric genetics (Psychiatr Genet) Vol. 11 Issue 4 Pg. 197-200 (Dec 2001) ISSN: 0955-8829 [Print] England
• PMID: 11807409 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• CELSR1 cadherin, human
• Cadherins
• DNA Primers

Topics

• Alleles
• Base Sequence
• Cadherins (genetics)
• Chromosome Mapping
• Chromosomes, Human, Pair 22
• DNA Mutational Analysis
• DNA Primers
• Exons
• Family
• Gene Frequency
• Genetic Variation
• Humans
• Neurons (physiology)
• Polymorphism, Genetic
• Reference Values
• Schizophrenia, Catatonic (genetics)