Table 2.
MYCN, CCND2, and associated genes and human developmental diseases.
| Phenotype | MIM number | Causative gene |
Inheritance | Functional alteration |
Transcriptional activity of MYCN |
|
|---|---|---|---|---|---|---|
| MYCN | Feingold syndrome 1 | #164280 | MYCN | AD | LoF | ↓ |
| Megalencephaly-polydactyly syndrome | #620748 | AD | GoF | ↑ | ||
| CCND | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | #615938 | CCND2 | AD | GoF | na |
| Others | Polydactyly-macrocephaly syndrome | #620712 | MAX | AD | GoF | ↑? |
| Developmental delay, hypotonia, and impaired language | #620012 | FBXW7 | AD | LoF | ↓? |
AD, autosomal dominant; AR, autosomal recessive; LoF, loss of function; GoF, gain of function.
The upward and downward arrows indicates up- and down-regulation, respectively. The inconclusive information is indicated with question marks.