Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
LELM Vissers, CMA van Ravenswaaij, R Admiraal… - Nature …, 2004 - nature.com
LELM Vissers, CMA van Ravenswaaij, R Admiraal, JA Hurst, BBA de Vries, IM Janssen…
Nature genetics, 2004•nature.comCHARGE 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.
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.
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.
nature.com