Table 1 Eleven OMIM documented genes and related diseases within the microduplication of 20p13p12.2 region
Gene | MIM Number | Related diseases | Inherited mode# |
|---|---|---|---|
PRNP | 176640 | Creutzfeldt-Jakob Disease; CJD, Gerstmann-Straussler Disease; GSD, Kuru, susceptibility to, Insomnia, fatal familial, Huntington disease-like 1, Prion disease with protracted course | AD |
PCNA | 176740 | ?Ataxia-telangiectasia-like disorder 2 | AR |
PROKR2 | 607123 | Hypogonadotropic hypogonadism 3 with or without anosmia | AD |
MCM8 | 608187 | ?Premature ovarian failure 10 | AR |
FERMT1 | 607900 | Kindler syndrome | AR |
BMP2 | 112261 | Brachydactyly, type A2, Hemochromatosis, Type 1; HFE1, Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | AD |
PLCB1 | 607120 | Developmental and epileptic encephalopathy 12 | AR |
PLCB4 | 600810 | Auriculocondylar syndrome 2 | AD/AR |
SNAP25 | 600322 | ?Myasthenic syndrome, congenital, 18 | AD |
MKKS | 604896 | McKusick-Kaufman syndrome, Bardet-Biedl syndrome 6 | AR |
JAG1 | 601920 | Alagille syndrome 1, Tetralogy of Fallot, Deafness, congenital heart defects, and posterior embryotoxon | AD |