Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
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.
Vissers
Lisenka E L M
LE
Department of Human Genetics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands.
van Ravenswaaij
Conny M A
CM
Admiraal
Ronald
R
Hurst
Jane A
JA
de Vries
Bert B A
BB
Janssen
Irene M
IM
van der Vliet
Walter A
WA
Huys
Erik H L P G
EH
de Jong
Pieter J
PJ
Hamel
Ben C J
BC
Schoenmakers
Eric F P M
EF
Brunner
Han G
HG
Veltman
Joris A
JA
van Kessel
Ad Geurts
AG
D000015:Abnormalities, Multiple / Q000235:genetics*; D002754:Choanal Atresia / Q000235:genetics*; D003103:Coloboma / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D003638:Deafness / Q000235:genetics; D017353:Gene Deletion; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D009154:Mutation; D017422:Sequence Analysis, DNA; D013577:Syndrome
D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human