| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
CNTNAP2 |
| Chromosomal Location |
7q35-q36 |
| Allelic Variant 1 |
.0001; CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME |
| Identified Mutation |
c.3709delG; In Old Order Amish patients with cortical dysplasia-focal epilepsy syndrome (CDFES; 610042), Strauss et al. (2006) identified a homozygous 1-bp deletion (3709delG) in exon 22 of the CNTNAP2 gene. The deletion was predicted to cause a frameshift that would result in the misincorporation of 16 amino acids beginning at position 1237. Premature termination of translation would occur at codon 1253. The mutation was predicted to yield a nonfunctional protein owing to the loss of the transmembrane and intracellular domains. |
| |
| Gene |
CNTNAP2 |
| Chromosomal Location |
7q35-q36 |
| Allelic Variant 2 |
.0001; CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME |
| Identified Mutation |
c.3709delG; In Old Order Amish patients with cortical dysplasia-focal epilepsy syndrome (CDFES; 610042), Strauss et al. (2006) identified a homozygous 1-bp deletion (3709delG) in exon 22 of the CNTNAP2 gene. The deletion was predicted to cause a frameshift that would result in the misincorporation of 16 amino acids beginning at position 1237. Premature termination of translation would occur at codon 1253. The mutation was predicted to yield a nonfunctional protein owing to the loss of the transmembrane and intracellular domains. |