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Article

Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Sept 2014

Sánchez Delgado Marta, Camprubí Cristina, Tümer Zeynep, Martínez Francisco, Milà Montserrat, Monk David

Abstract excerpt

The phenotype overlap between autism spectrum disorders (ASD) & intellectual disabilities (ID) is mirrored at the genetic level, with common genes being reported mutated in variety of developmental disabilities. However despite widespread genetic screening for mutations, in approximately 40-60% of childhood developmental disorders the genetic cause remains unknown. Several genome-wide linkage screens in ASD have...

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Topics

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Share to Autistic Disorder
Share to Chromosomes, Human, Pair 8

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to Epigenesis, Genetic

Share to Genomic Imprinting

Share to Intellectual Disability

Share to Potassium Channels, Tandem Pore Domain

Share to Tourette Syndrome

Source

Identifiers

PMID: 24980697
DOI: 10.1002/ajmg.b.32250

Genes

KCNK9
TRAPPC9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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