Disease relevance of CNTNAP3

• This observation suggests possible involvement of CNTNAP3 in the etiology of bladder exstrophy [1].

High impact information on CNTNAP3

• Caspr3 and caspr4, two novel members of the caspr family are expressed in the nervous system and interact with PDZ domains [2].
• Caspr3 was detected along axons in the corpus callosum, spinal cord, basket cells in the cerebellum and in peripheral nerves, as well as in oligodendrocytes [2].
• A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9 [1].
• Additionally, FISH analysis identified several genomic copies of CNTNAP3 on both sides of the chromosome 9 centromere flanking the polymorphic heterochromatin [1].
• The identification of multiple copies of three BAC clones in the proband, his parents, and unrelated controls suggests that duplications of CNTNAP3 and the surrounding genomic region have occurred as a result of repeated events of unequal crossing over and pericentric inversions during chromosome 9 evolution [1].

Biological context of CNTNAP3

• Characterization of the chromosome 9q13 breakpoint indicated a disruption in the 5' region of CNTNAP3 within BAC RP11-292B8 [1].

Analytical, diagnostic and therapeutic context of CNTNAP3

• Northern blot analysis of lymphoblast and bladder RNA confirmed CNTNAP3 transcripts in these tissues and did not show abnormal CNTNAP3 expression in the proband and two unrelated patients with bladder exstrophy [1].

References