Disease relevance of CHD7

• CHD7 gene mutations were identified in 17 (71%) of 24 children clinically diagnosed to have CHARGE syndrome (C, coloboma of the iris or retina; H, heart defects; A, atresia of the choanae; R, retardation of growth and/or development; G, genital anomalies; and E, ear abnormalities) [1].
• CHD7 gene and non-syndromic cleft lip and palate [2].
• When rare whole gene deletion cases associated with chromosomal abnormalities are excluded, all mutations of CHD7 reported to date have been point mutations and small deletions and insertions, rather than exonic deletions [3].

Psychiatry related information on CHD7

• Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development [4].

High impact information on CHD7

• NMYC and SOX2 are transcription factors, whereas CHD7 is encoded by a chromodomain helicase DNA-binding gene, important for chromatin structure and gene expression [5].
• Mutations were distributed throughout the coding exons and conserved splice sites of CHD7 [6].
• We conclude that cardiovascular malformations, coloboma, and facial asymmetry are common findings in CHARGE syndrome caused by CHD7 mutation [6].
• Microarray gene-expression analysis showed a signature pattern of gene-expression differences that distinguished the individuals with CHARGE syndrome with CHD7 mutation from the controls [6].
• The human CHD7 gene is known to be involved in CHARGE syndrome, which also shows inner ear malformations and a variety of other features with varying penetrance and appears to be due to frequent de novo mutation [7].

Biological context of CHD7

• Recently, microdeletion at 8q12 locus was reported in two patients with CHARGE, although point mutation in CHD7 on chromosome 8 was the underlying etiology in most of the affected patients [8].
• The CHD7 gene on chromosome 8q12.1 was recently discovered as a major gene involved in the aetiology of this syndrome [9].
• Kallmann Syndrome Phenotype in a Female Patient with CHARGE Syndrome and CHD7 Mutation [10].
• Because CHD7 was identified as a causative gene using a positional cloning approach, the role of CHD7 in early embryogenesis needs to be further investigated [11].

Anatomical context of CHD7

• RESULTS: The diagnosis of CHARGE syndrome was confirmed in all 10 fetuses by the identification of a CHD7 heterozygous truncating mutation [4].

Analytical, diagnostic and therapeutic context of CHD7

• 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 [12].
• Screening for CHARGE Syndrome Mutations in the CHD7 Gene Using Denaturing High-Performance Liquid Chromatography [13].

References