Table 2. Candidate genes for the target resequencing.
Gene | Position | Exons | Target | Corresponding disorder (s) | Inheritance | Comment | Reference |
---|---|---|---|---|---|---|---|
CASK | Xp11.4 | 27 | whole gene | MICPCH | XD | Causative gene | |
HDAC2 | 6q21 | 14 | all exons | MICPCH | AD | Candidate gene | |
TBR1 | 2q24.2 | 6 | all exons | Coactivator of CASK | [32] | ||
RELN | 7q22.1 | 65 | all exons | Lissencephaly | AR | Causative gene | [30] |
VLDLR | 9p24.2 | 19 | all exons | CAMRQ1 | AR | Causative gene; a part of RELN signaling pathway | [41] |
DAB1 | 1p32.2 | 15 | all exons | Component of RELN signaling pathway | |||
LRP8 | 1p32.3 | 19 | all exons | Component of RELN signaling pathway | |||
FYN | 6q21 | 11 | all exons | Component of RELN signaling pathway | |||
VRK1 | 14q32.2 | 12 | all exons | PCH1A | AR | Causative gene | [42] |
EXOSC3 | 9p13.2 | 4 | all exons | PCH1B | AR | Causative gene | [43] |
TSEN54 | 17q25.1 | 11 | all exons | PCH2A, PCH4 | AR | Causative gene | [44] |
TSEN2 | 3p25.3 | 11 | all exons | PCH2B | AR | Causative gene | [44] |
TSEN34 | 19q13.42 | 5 | all exons | PCH2C | AR | Causative gene | [44] |
SEPSECS | 4p15.2 | 11 | all exons | PCH2D | AR | Causative gene | [45] |
RARS2 | 1p32.3 | 1 | all exons | PCH6 | AR | Causative gene | [46] |
CHMP1A | 16q24.3 | 6 | all exons | PCH8 | AR | Causative gene | [47] |
BMI1 | 10p12.2 | 9 | all exons | Regulated by CHMP1A | [47] |
PCH: pontocerebellar hypoplasia CAMRQ1: cerebellar ataxia, mental retardation, and dysequilibrium syndrome
AD: autosomal dominant AR: autosomal recessive XD: X-linked dominant