Genetics of intellectual disability in consanguineous families

Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual disability (ID) in countries with frequent parental consanguinity, which account for about 1/7th of the world population. Yet, compared to autosomal dominant de novo mutations, which are the predominant cause of ID in Western countries, the identification of AR-ID genes has lagged behind. Here, we report on whole exome and whole genome sequencing in 404 consanguineous predominantly Iranian families with two or more affected offspring. In 219 of these, we found likely causative variants, involving 77 known and 77 novel AR-ID (candidate) genes, 21 X-linked genes, as well as 9 genes previously implicated in diseases other than ID. This study, the largest of its kind published to date, illustrates that high-throughput DNA sequencing in consanguineous families is a superior strategy for elucidating the thousands of hitherto unknown gene defects underlying AR-ID, and it sheds light on their prevalence

Significant differential gene duplication without ancestral tetraploidy in a genus of mexican fish

A comparison of the protein products of 20–25 structural gene loci among the known species of the goodeid fish genus Skiffia suggests that at least 4 loci (16–20%) have undergone species-specific duplications (or, in 1 case, apparent loss) during the evolution of the genus. The species are clearly diploids, and the data therefore indicate that even a large proportion of differentially duplicated loci within a group of related fish species is not critical evidence of common tetraploid ancestry. Differential duplication of structural gene loci may be an important component of the genetic differences that separate congeneric conventional diploid species.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/42725/1/18_2005_Article_BF01953797.pd

Molecular elucidation of hereditary eye diseases: pivotal role of the clinician

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X-linked mental retardation.

Contains fulltext : 47374.pdf (publisher's version ) (Closed access)Genetic factors have an important role in the aetiology of mental retardation. However, their contribution is often underestimated because in developed countries, severely affected patients are mainly sporadic cases and familial cases are rare. X-chromosomal mental retardation is the exception to this rule, and this is one of the reasons why research into the genetic and molecular causes of mental retardation has focused almost entirely on the X-chromosome. Here, we review the remarkable recent progress in this field, its promise for understanding neural function, learning and memory, and the implications of this research for health care

Mapping and cloning hereditary deafness genes

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Mutations in the MEN I gene in sporadic neuroendocrine tumours of gastroenteropancreatic system

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The MAS proto-oncogene is not imprinted in humans

Contains fulltext : 23099___.PDF (publisher's version ) (Open Access