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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome |
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| Authors: | Vissers Lisenka E L M van Ravenswaaij Conny M A Admiraal Ronald Hurst Jane A de Vries Bert B A Janssen Irene M van der Vliet Walter A Huys Erik H L P G de Jong Pieter J Hamel Ben C J Schoenmakers Eric F P M Brunner Han G Veltman Joris A van Kessel Ad Geurts |
| Institution: | Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands. |
| Abstract: | CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome. Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals. |
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