Table 1

Investigations implicating CNTNAP2 in neurological disorders

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


Newbury et al. Genome Medicine 2010 2:6   doi:10.1186/gm127