Genetics of early onset cognitive impairment

Intellectual disability (ID) is the leading socio-economic problem of health care, but compared to autism and schizophrenia, it has received very little public attention. Important risk factors for ID are malnutrition, cultural deprivation, poor health care, and parental consanguinity. In the Wester...

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Bibliographic Details
Published in:Annual review of genomics and human genetics 2010-01, Vol.11 (1), p.161-187
Main Author: Ropers, Hans Hilger
Format: Article
Language:English
Subjects:
Animals
Chromosome Aberrations
Genes, X-Linked
Humans
Intellectual Disability - genetics
Intellectual Disability - physiopathology
Intellectual Disability - therapy
Male
Socioeconomic Factors
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Summary:Intellectual disability (ID) is the leading socio-economic problem of health care, but compared to autism and schizophrenia, it has received very little public attention. Important risk factors for ID are malnutrition, cultural deprivation, poor health care, and parental consanguinity. In the Western world, fetal alcohol exposure is the most common preventable cause. Most severe forms of ID have genetic causes. Cytogenetically detectable and submicroscopic chromosomal rearrangements account for approximately 25% of all cases. X-linked gene defects are responsible in 10-12% of males with ID; to date, 91 of these defects have been identified. In contrast, autosomal gene defects have been largely disregarded, but due to coordinated efforts and the advent of next-generation DNA sequencing, this is about to change. As shown for Fra(X) syndrome, this renewed focus on autosomal gene defects will pave the way for molecular diagnosis and prevention, shed more light on the pathogenesis of ID, and reveal new opportunities for therapy.
ISSN:1527-8204
1545-293X
DOI:10.1146/annurev-genom-082509-141640