GENETICS

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Hi everyone

Here's the abstract from the Nature Genetics website relating to the paper

that has just been published. If anybody is interested the whole article can

be purchased for $30 from the site.

Regards

Simon

Mutations in a new member of the chromodomain gene family cause CHARGE

syndrome

Lisenka E L M Vissers1, Conny M A van Ravenswaaij1, Admiraal2, Jane A

Hurst3, Bert B A de Vries1, Irene M Janssen1, Walter A van der Vliet1,

H L P G Huys1, Pieter J de Jong4, Ben C J Hamel1, F P M Schoenmakers1,

Han G Brunner1, Joris A Veltman1 & Ad Geurts van Kessel1

1 Department of Human Genetics, University Medical Center Nijmegen, PO Box

9101, 6500 HB Nijmegen, The Netherlands.

2 Department of Otorhinolaryngology, University Medical Center Nijmegen, PO

Box 9101, 6500 HB Nijmegen, The Netherlands.

3 Department of Clinical Genetics, The Churchill Hospital, Old Road,

Headington, Oxford OX3 7LJ, UK.

4 Children's Hospital Oakland Research Institute, BACPAC Resources, 747

52nd Street, Oakland, California 94609-1809, USA.

Correspondence should be addressed to Joris A Veltman

j.veltman@...

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.