|
|||||
|
|
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci |
|
| Authors: | Hossein Najmabadi Mohammad Mahdi Motazacker Masoud Garshasbi Kimia Kahrizi Andreas Tzschach Wei Chen Farkhondeh Behjati Valeh Hadavi Sahar Esmaeeli Nieh Seyedeh Sedigheh Abedini Reza Vazifehmand Saghar Ghasemi Firouzabadi Payman Jamali Masoumeh Falah Seyed Morteza Seifati Annette Grüters Steffen Lenzner Lars R. Jensen Franz Rüschendorf Andreas W. Kuss H. Hilger Ropers |
| Affiliation: | (1) Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran;(2) Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestr. 73, 14195 Berlin, Germany;(3) Genetic and Pathology Laboratory, Tehran, Iran;(4) Department of Paediatric Endocrinology, Otto Heubner Centre for Paediatrics, Berlin, Germany;(5) Gene Mapping Centre, Max Delbrück Centre for Molecular Medicine, Berlin, Germany |
| Abstract: | Autosomal recessive gene defects are arguably the most important, but least studied genetic causes of severe cognitive dysfunction. Homozygosity mapping in 78 consanguineous Iranian families with nonsyndromic autosomal recessive mental retardation (NS-ARMR) has enabled us to determine the chromosomal localization of at least 8 novel gene loci for this condition. Our data suggest that in the Iranian population NS-ARMR is very heterogeneous, and they argue against the existence of frequent gene defects that account for more than a few percent of the cases. Mohammad Mahdi Motazacker and Masoud Garshasbi have contributed equally to this work. |
| Keywords: | |
| 本文献已被 PubMed SpringerLink 等数据库收录！ | |