Mutational analysis of the neuronal cadherin gene CELSR1 and exclusion as a candidate for catatonic schizophrenia in a large family.
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.
Gross
J
J
Department of Psychiatry and Psychotherapy, University of Wuerzburg, Wuerzburg, Germany.
Grimm
O
O
Ortega
G
G
Teuber
I
I
Lesch
K P
KP
Meyer
J
J
D000483:Alleles; D001483:Base Sequence; D015820:Cadherins / Q000235:genetics*; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005091:Exons; D005190:Family; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D009474:Neurons / Q000502:physiology; D011110:Polymorphism, Genetic; D012016:Reference Values; D012560:Schizophrenia, Catatonic / Q000235:genetics*
C454220:CELSR1 cadherin, human; D015820:Cadherins; D017931:DNA Primers