Skip to main content

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