Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 19, Issue 5, Pages 597-601Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2010.167
Keywords
intellectual disability; mental retardation; autosomal recessive; homozygosity mapping; outbred
Funding
- Dutch Organisation for Health Research and Development (ZON-MW), Hersenstichting Nederland [917-86-319]
Ask authors/readers for more resources
Autosomal recessive mental retardation (AR-MR) may account for up to 25% of genetic mental retardation (MR). So far, mapping of AR-MR genes in consanguineous families has resulted in six nonsyndromic genes, whereas more than 2000 genes might contribute to AR-MR. We propose to use outbred families with multiple affected siblings for AR-MR gene identification. Homozygosity mapping in ten outbred families with affected brother-sister pairs using a 250 K single nucleotide polymorphism array revealed on average 57 homozygous regions over 1Mb in size per affected individual (range 20-74). Of these, 21 homozygous regions were shared between siblings on average (range 8-36). None of the shared regions of homozygosity (SROHs) overlapped with the nonsyndromic genes. A total of 13 SROHs had an overlap with previously reported loci for AR-MR, namely with MRT8, MRT9, MRT10 and MRT11. Among these was the longest observed SROH of 11.0Mb in family ARMR1 on chromosome 19q13, which had 2.9Mb (98 genes) in common with the 5.4Mb MRT11 locus (195 genes). These data support that homozygosity mapping in outbred families may contribute to identification of novel AR-MR genes. European Journal of Human Genetics (2011) 19, 597-601; doi:10.1038/ejhg.2010.167; published online 19 January 2011
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available