Table 1 Investigations implicating CNTNAP2 in neurological disorders
From: Recent advances in the genetics of language impairment
Study | Trait | Gene disruption |
|---|---|---|
Vernes et al. 2008 [43] | SLI | None - association with common variants; candidate gene association study |
Zweier et al. 2009 [45] | Mental retardation with seizures (resembling Pitt-Hopkins syndrome) | Homozygous deletion in a single sib pair; point mutation in a single proband |
Alarcón et al. 2008 [57] | Autism; quantitative measure of age at first word' | None - association with common variants; positional mapping of chromosome 7 'linkage region |
Verkerk et al. 2003 [58] | Gilles de la Tourette syndrome with obsessive compulsive disorder and mental retardation | Complex chromosome rearrangement in a single family |
Friedman et al. 2008 [59] | Epilepsy and schizophrenia (one patient had autistic features and mental retardation) | Deletion in three unrelated individuals |
Strauss et al. 2006 [60] | Cortical dysplasia, focal epilepsy, relative macrocephaly and diminished deep-tendon reflexes | Point mutation; homozygosity mapping in isolated population |
Arking et al. 2008 [61] | Autism | None - association with common variants; genome-wide association |
Bakkaloglu et al. 2008 [62] | Autism | Inversion - single patient; coding changes - mutation screen in patient cohort |
Rossi et al. 2008 [63] | Autism and primary amenorrhea | Deletion - single patient |
Poot et al. 2009 [65] | Autism | Complex chromosome rearrangement in a single individual |
Elia et al. 2009 [66] | ADHD | Copy number variant - hemizygous deletion in a single proband |
Terracciano et al. 2008 [80] | Openness to experience - the unconventional, emotionally and artistically sensitive; agreeableness | None - association with common variants; genome-wide association of personality tendency to be imaginative, creative, dimensions |