ArticleMolecular syndromology2014
Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome.
Article in Molecular syndromology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- CHARGE syndrome associated withExperimental and therapeutic medicine · 2020Article
- Regulation of nucleosome positioning by a CHD Type III chromatin remodeler and its relationship to developmental gene expression inGenome research · 2017Article
- Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion.Balkan journal of medical genetics : BJMG · 2015Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
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Abstract
CHARGE syndrome is a rare congenital condition characterized by 6 cardinal features: coloboma, heart defect, atresia choanae, retarded growth and development, genital anomalies, and ear anomalies/deafness. Mutations of the chromodomain helicase DNA-binding protein gene CHD7 are reported to be a major cause of CHARGE syndrome. Herein, we report the case of a 27-year-old patient presenting with typical symptoms who bears a novel heterozygous insertion in exon 2 of the CHD7 gene (c.327dupC) resulting in an amino acid substitution and a frameshift (p.Val110Argfs*22) that leads to a 131-amino-acid truncated polypeptide, likely representing a null allele. Parental genetic screening confirmed the sporadic origin of the mutation.
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