Table 1 List of genes implicated in X-linked cerebellar dysgenesis.
SYNDROME | GENE | CEREBELLAR PHENOTYPE | CHROMOSOMAL LOCALIZATION | MIM# |
|---|---|---|---|---|
Oligophrenin-1 | OPHN1 | cerebellar hypoplasia (vermis lobules VI-VII) | Xq12 | 300486 |
CASK | CASK | cerebellar hypoplasia | Xp11.4 | 300749 |
Christianson | SLC9A6 | cerebellar atrophy | Xq26 | 300231 |
Hoyeraal-Hreidarsson | DCK1 | global cerebellar hypoplasia | Xq28 | 300240 |
X-linked sideroblastic anemia/Ataxia | ABC7 | global cerebellar atrophy | Xq13 | 300240 |
Oral-facial-digital type I/X-linked Joubert | OFD1 | vermis hypoplasia/molar tooth sign | Xp22 | 311200 |
Opitz GBBB | MID1 | anterior vermis hypoplasia | Xp22 | 300000 |
FragileX/FXTAS | FMR1 | posterior vermis hypoplasia/cerebellar atrophy | Xq27 | 300624/300623 |
Rett | MECP2 | cerebellar atrophy | Xq28 | 312750 |
MECP2/Xq28 duplications | - | Cerebellar atrophy/vermis hypoplasia (DWM spectrum) | Xq28 | 300260/300815 |
X-linked heterotaxy | ZIC3 | vermis hypoplasia | Xq26 | 306955 |
X-linked hydrocephalus | L1CAM | global or anterior vermis hypoplasia | Xq28 | 307000 |
Fried | AP1S2 | mild vermis hypoplasia | Xp22 | 300630 |
X-linked lissencephaly with abnormal genitalia | ARX | severe cerebellar hypoplasia | Xp21 | 300004 |
X-linked Lissencephaly | DCX | mild cerebellar hypoplasia (vermis) | Xq22 | 300067 |
Oto-palato-digital type II | FLNA | mild cerebellar hypoplasia | Xq28 | 300049 |