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| Angelman Rett like syndromes v2.2 | CHD8 | Zornitza Stark Marked gene: CHD8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v2.2 | CHD8 | Zornitza Stark Gene: chd8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Angelman Rett like syndromes v2.2 | CHD8 |
Zornitza Stark gene: CHD8 was added gene: CHD8 was added to Angelman Rett like syndromes. Sources: Literature Mode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD8 were set to 40496977 Phenotypes for gene: CHD8 were set to Intellectual developmental disorder with autism and macrocephaly #615032 Review for gene: CHD8 was set to RED Added comment: Single individual reported with a heterozygous stop-gain variant [NM_001170629.2: c.5017C>T, p.(Arg1673∗)], in the chromodomain-helicase-DNA-binding protein 8 (CHD8) gene. In vitro functional analyses, including Western blots, quantitative reverse transcription polymerase chain reaction (qRT-PCR), and proteomic analyses, demonstrated a significant reduction of the CHD8 transcript and two CHD8 protein isoforms in the proband's skin fibroblasts relative to control fibroblasts. Additionally, proteomic analysis indicated a significant reduction of the MeCP2 protein, indicating a possible molecular link between CHD8 and MeCP2 and thus clinically between IDDAM and RTT. Sources: Literature |
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