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

Psychiatr Genet. 2001 Dec;11(4):197-200. doi: 10.1097/00041444-200112000-00003.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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*

Substances

  • CELSR1 cadherin, human
  • Cadherins
  • DNA Primers

Associated data

  • OMIM/605419