AI Article Synopsis
- CHARGE syndrome is a rare genetic disorder caused by mutations in a specific gene and is usually inherited in an autosomal dominant manner.
- A specific mutation (c.7165-4A>G) was found in a Japanese boy diagnosed with CHARGE syndrome, but it's categorized as an "unclassified variant" because it doesn't occur at the typical splicing sites.
- Researchers validated the abnormal splicing resulting from this variant using cDNA sequencing, confirming its impact on the disorder.
Article Abstract
CHARGE syndrome is a rare autosomal dominant disease that is typically caused by heterozygous mutations. A variant in a splicing acceptor site (NM_017780.3:c.7165-4A>G) was identified in a Japanese boy with CHARGE syndrome. This variant has been considered to be an "unclassified variant" due to its position outside the consensus splicing sites. In this study, abnormal splicing derived from this known variant was confirmed by cDNA sequencing.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842149 | PMC |
| http://dx.doi.org/10.1038/hgv.2018.6 | DOI Listing |
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