PMC3447220_01
PMC3447220_02
Schematic of the chromosome 7 region encompassing the CNTNAP2 gene. (a) shows an ideogram of chromosome 7, together with the location of the CNTNAP2 gene. (b) shows the exonic organisation of the CNTNAP2 gene and the location and extent of the deletion detected in the proband (indicated by an asterisk), his brother and his mother, together with deletions reported by Gregor et al. (patients reported as C5 and C6 with deletions of exons 2-3 and 3-4, resp.), and Mefford et al. (patient reported as K034 with a deletion of exons 2-4; coordinates taken from Figure 2 of this publication), which lie in the same region of the CNTNAP2 gene. The images presented here are taken from the UCSC genome browser (http://genome.ucsc.edu/).
CRIM.GENETICS2012-172408.001.jpg
PMC3447220_02_CRIM.GENETICS2012-172408.001.jpg
fig1
The proband's molecular karyotype revealed a 451 kb interstitial deletion on chromosome 7q35 (145,944,468-146,395,611); Figure 1.
Pedigree of proband and copy number changes. The copy number changes detected in all members of the pedigree are shown; the common deletion detected in the CNTNAP2 gene is shown in grey, and the proband is indicated by an arrow.
CRIM.GENETICS2012-172408.002.jpg
PMC3447220_02_CRIM.GENETICS2012-172408.002.jpg
fig2
A similar deletion was identified in the proband's mother and brother; Figure 2.