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. 2017 Aug 7;12(8):e0181791. doi: 10.1371/journal.pone.0181791

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