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.
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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)
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Chemical References |
- CELSR1 cadherin, human
- Cadherins
- DNA Primers
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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)
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