Table 1.
Overview of genetic findings in 35 patients with hereditary neuropathy with onset in the first year of life
| Gene | Mutation | Individual | Inheritance | Segregation | Ethnicity | Consanguinity | Reference/additional remark |
|---|---|---|---|---|---|---|---|
| CMT1A | Duplication | CMT-AII2_5.1 | Autosomal dominant | + | Belgian | − | Raeymaekers et al. (1991) |
| PN-1745.1 | Isolated case | − | Belgian | − | |||
| PN-491.1 | Autosomal dominant | + | Austrian | − | |||
| PN-908.3 | Autosomal dominant | + | Spanish | − | |||
| PMP22 | Partial duplication exon 4 | CMT-127.04 | Isolated case | − | European | − | |
| EGR2 | Arg359Trp | PN-27.1 | Isolated case, de novo | + | Ashkenazy Jewish | − | Timmerman et al. (1999) |
| MFN2 | Arg104Trp | CMT-797.01 | Isolated case, de novo | + | Greek | − | |
| Arg400Pro | CMT-756.01 | Isolated case, | + | Italian/Irish | − | Parental mosaicism in asymptomatic mother | |
| MPZ | His81Arg | CMT-65.07 | Autosomal dominant | + | British | − | Sorour et al. (1997). Two additional family members born with clubfeet |
| Ala209GlufsX24 | PN-1540.1 | Isolated case, de novo | + | Belgian | − | ||
| Asp134Glu | PN-506.1 | Autosomal dominant | + | Belgian | − | Nelis et al. (1994). Two additional family members with delayed motor milestones | |
| Arg98Cys | PN-752.1 | Isolated case | − | Belgian | − | ||
| Arg98Cys | PN-966.4 | De novo | + | Austrian | − | Similarly affected identical twins | |
| NEFL | Asn98Ser | PN-1385.1 | Isolated case | − | Finnish | − | |
| PMP22 | Ser72Leu | PN-750.3 | Isolated case, de novo | + | Belgian | − | Ceuterick-de Groote et al. (2001) |
| FGD4 | Tyr587fsX14 hmz | CMT-190.01 | Isolated case | + | Italian | + | Fabrizi et al,(2009) |
| Arg224stop hmz | CMT-230.01 | Isolated case | + | Turkish | + | Stendel et al. (2007) | |
| GDAP1 | Ser194stop hmz | PN-860.3 | Autosomal recessive | + | Moroccan | + | Nelis et al. (2002) |
| MTMR2 | His416ArgfsX6 hmz | CMT-201.01 | Isolated case | − | Turkish | − | |
| PRX | Gly1258ThrfsX124 hmz | PN-1699.1 | Isolated case | − | Druze (Israel) | + | |
| Ala244ArgfsX69 hmz | PN-2175.1 | Isolated case | + | Moroccan | + | ||
| Cys715stop hmz | PN-44.1 | Autosomal recessive | + | Belgian | + | Takashima et al. (2002) | |
| Leu83CysfsX14 hmz | PN-761.3 | Isolated case | + | Maghreb | + | Takashima et al. (2002) | |
| SBF2 | Gln513Stop hmz | CMT-194.01 | Isolated case | − | Turkish | + | |
| Tyr1594Stop hmz | CMT-220.01 | Isolated case | + | Turkish | + | ||
| Leu1316PhefsX9 + Arg1433Ser | PN-1101.2 | Isolated case | + | Polish | − | ||
| SH3TC2 | Arg954Stop + Ala878Asp | CMT-191.01 | Isolated case | + | Italian | − | |
| Arg954Stop hmz | CMT-192.01 | Isolated case | + | Italian | − | ||
| Arg529Gln hmz | CMT-133.01 | Isolated case | + | Turkish | + | Senderek et al. (2003) | |
| IVS5-2A>G hmz | CMT-189.V.5 | Autosomal recessive | + | Italian | + | Senderek et al. (2003) | |
| Glu657Lys hmz | CMT-234.01 | Isolated case | + | Turkish | + | Senderek et al. (2003) | |
| Arg583AlafsX586 hmz | CMT-235.01 | Isolated case | + | Turkish | + | Senderek et al. (2003) | |
| Leu832HisfsX839 hmz | PN-1289.1 | Isolated case | − | Iranian | + | Senderek et al. (2003) | |
| Arg954stop hmz | PN-1321.1 | Isolated case | + | Belgian | − | ||
| Arg954stop hmz | PN-754.3 | Isolated case | + | Dutch | − | ||
Mutations are heterozygous unless stated otherwise, novel mutations are shown in bold, hmz, homozygous.