IPN causative genes and the inheritance pattern

Type Dominant Recessive
Demyelinating type PMP22, PMP2, MPZ*, LITAF, FBLN5, EGR2*, NEFL* MPZ*, NEFL*, EGR2*, GDAP1*, MTMR2, SH3TC2, NDRG1, PRX, FGD4, SBF1, SBF2, FIG4, CTDP1, SURF1, ADCY6, CNTNAP1, HK1
Axonal type MFN2, GDAP1*, LRSAM1*, MPZ*, NEFH, KIF5A, ATP1A1, VCP, TFG, DHTKD1, TUBB3, NAGLU, DCAF8, DGAT2, MORC2, HSPB1, HSPB3, HSPB8, GARS, AARS, HARS, MARS, DYNC1H1, BICD2, REEP1, BSCL2, SETX, SLC5A7, MYH14, TRPV4, RAB7 LMNA, PNKP, TRIM2, SPG11, MME, MCM3AP, SLC25A46, SCO2, MPV17, LRSAM1*, C12orf65, IGHMBP2, SIGMAR1, VRK1, ATP7A, UBA1, GLE1, LAS1L
Intermediate type (mixed type) NEFL*, MPZ*, GJB1, YARS, INF2, DRP2, DNM2, GNB4, PDK3 GDAP1*, COX6A1, PLEKHG5, KARS, AIFM1, PRPS1
Incidence > 95% < 5%

*Mutations in the gene cause dominant or recessive inheritance.

Exp Neurobiol 2020;29:177~188 https://doi.org/10.5607/en20004
© Exp Neurobiol