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Trends Genet. 2014 Jan;30(1):32-9. doi: 10.1016/j.tig.2013.09.008. Epub 2013 Oct 28.

Genetics of recessive cognitive disorders.

Author information

1
Max Planck Institute of Molecular Genetics, Berlin, Germany.
2
Max Planck Institute of Molecular Genetics, Berlin, Germany. Electronic address: ropers@molgen.mpg.de.

Abstract

Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X chromosome gene defects and disease-causing copy-number variants have been linked to ID and related disorders, and recent studies have revealed that sporadic cases are often due to dominant de novo mutations with low recurrence risk. For autosomal recessive ID (ARID) the recurrence risk is high and, in populations with frequent parental consanguinity, ARID is the most common form of ID. Even so, its elucidation has lagged behind. Here we review recent progress in this field, show that ARID is not rare even in outbred Western populations, and discuss the prospects for improving its diagnosis and prevention.

KEYWORDS:

autosomal recessive ID; healthcare; homozygosity mapping; next-generation sequencing

PMID:
24176302
DOI:
10.1016/j.tig.2013.09.008
[Indexed for MEDLINE]
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