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Carboxy-Terminal Domain Phosphatase 1: Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome 

Carboxy-Terminal Domain Phosphatase 1: Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Carboxy-Terminal Domain Phosphatase 1: Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome

Luba Kalaydjieva

, Teodora Chamova

, and Rebecca Gooding

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date: 07 March 2021

CHARGE syndrome (MIM#214800) is a multiple congenital anomaly disorder that affects roughly 1 in 15,000 newborns worldwide. Individuals with CHARGE have varied clinical features including ocular colobomata, heart defects, choanal atresia, retardation of growth and development, genital hypoplasia/endocrine abnormalities, and ear anomalies with deafness and vestibular disorders. Depending on the clinical selection, 60-90% of the individuals suspected for CHARGE syndrome have de novo, heterozygous mutations in CHD7, the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7, MIM#608892). Nonsense, missense, splice site, and deletion mutations have all been reported and presumably lead to CHD7 haploinsufficiency although other mechanisms have not been investigated. CHD7 is one of nine members of a superfamily of CHD nuclear proteins that contain two N-terminal chromodomains, a SNF2-like ATPase/helicase domain, and BRK and SANT domains thought to mediate protein-protein interactions. CHD7 proteins form multi-protein complexes which bind to methylated histones at enhancer elements and transcription start sites to regulate gene transcription. The human CHD7 gene, located on chromosome 8q12, comprises 188 kb of DNA and contains 38 exons. Human CHD7 comprises 2997 amino acids and is highly evolutionarily conserved, with orthologues in mouse, zebrafish, fly, Xenopus, C. elegans, and yeast. Deletion studies have revealed important roles for CHD7 in stem and progenitor cell proliferation, differentiation, and migration in a variety of developing cells and tissues.

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