Table 1 Genotypes of patients with pathogenic mutations
From: Improving diagnosis of inherited peripheral neuropathies through gene panel analysis
Gene | Ref. sequence | No. of unrelated families with the mutation | Variations at DNA-level (relative to coding DNA sequence) | Variation at protein level (deduced) |
|---|---|---|---|---|
AARS | (NM_001605.2) | 3 | c.986G>A | p.Arg329His |
ATP7A | (NM_000052.6) | 1 | c.2981C>T | p.Thr994Ile |
BSCL2 | (NM_032667.6) | 2 | c.263 A>G | p.Asn88Ser |
BSCL2 | (NM_032667.6) | 1 | c.269 C>T | p.Leu90Ser |
COX6A1 | (NM_004373.2) | 1 | c.[247-7_247-3del];[c.247-7_247-3del] | |
DYNC1H1 | (NM_001376.4) | 2 | c.1792 C>T | p.Arg598Cys |
EGR2 | (NM_000399.3) | 1 | c.1231G>A | p.Asp411Asn |
FBLN5 | (NM_006329.3) | 1 | c.1117C>T | p.Arg373Cys |
FIG4 | (NM_014845.5) | 1 | c.[498-1G>A];[122T>C] | |
FIG4 | (NM_014845.5) | 2 | c.[793C>T];[122T>C] | p.[Arg265*];[Ile41Thr] |
GDAP1 | (NM_018972.2) | 1 | c.715C>T | p.Leu239Phe |
GJB1 | (NM_000166.5) | 1 | c.88A>T | p.Ile30Phe |
GJB1 | (NM_000166.5) | 1 | c.641dup | p.Arg215Profs*28 |
GJB1 | (NM_000166.5) | 1 | c.622G>A | p.Glu208Lys |
GJB1 | (NM_000166.5) | 1 | c.212T>C | p.Ile71Thr |
GJB1 | (NM_000166.5) | 1 | no amplification (deletion), confirmed with MLPA | |
HINT1 | (NM_005340.5) | 2 | c.[110G>C];[110G>C] | p.[Arg37Pro];[Arg37Pro] |
HSPB1(HSP27) | (NM_001540.3) | 1 | c.505_506dup | p.Met169Ilefs*5 |
HSPB3 | (NM_006308.2) | 1 | c.21G>T | p.Arg7Ser |
INF2 | (NM_022489.3) | 1 | c.383T>C | p.Leu128Pro |
INF2 | (NM_022489.3) | 1 | c.233T>C | p.Leu78Pro |
INF2 | (NM_022489.3) | 1 | c.162-173del | p.Lys55_Glu58del |
LITAF | (NM_001136472.1) | 1 | c.334G>A | p.Gly112Ser |
MFN2 | (NM_014874.3) | 1 | c.280 C>T | p.Arg94Trp |
MFN2 | (NM_014874.3) | 1 | c.436 C>T | p.Leu146Phe |
MFN2 | (NM_014874.3) | 1 | c.493 C>T | p.His165Tyr |
MFN2 | (NM_014874.3) | 1 | c.701T>A | p.Met234Lys |
MFN2 | (NM_014874.3) | 1 | c.839G>A | p.Arg280His |
MFN2 | (NM_014874.3) | 1 | c.880C>T | p.Arg294* |
MFN2 | (NM_014874.3) | 1 | c.1081C>T | p.His361Tyr |
MFN2 | (NM_014874.3) | 1 | c.1090 C>T | p.Arg364Trp |
MFN2 | (NM_014874.3) | 1 | c.1574A>G | p.Asn525Ser |
NDRG1 | (NM_001135242.1) | 1 | c.442 C>T | p.Arg148* |
NEFL | (NM_006158.4) | 1 | c.310T>G | p.Phe104Val |
NEFL | (NM_006158.4) | 1 | c.1186G>A | p.Glu396Lys |
PMP22 | (NM_153322.1) | 1 | c.124T>C | p.Cys42Arg |
PMP22 | (NM_153322.1) | 1 | c.421_436del | p.Val141Profs*9 |
SETX | (NM_015046.5) | 1 | c.[1656G>T(;)1658C>T] | p.[(Gln552His(;)Ser553Phe)] |
SBF2 | (NM_030962.3) | 1 | c.[134T>A];[c.134T>A] | p..[Ile45Asn];[Ile45Asn] |
SEPT9 | (NM_001113491.1) | 1 | heterozygous large duplication, confirmed with MLPA | |
SH3TC2 | (NM_024577.3) | 1 | c.[2860C>T];[c.279G>A] | p.[Arg954*];[Lys93Lys] |
SH3TC2 | (NM_024577.3) | 1 | c.[2860C>T];[1447T>G] | p.[Arg954*];[Phe483Val] |
SH3TC2 | (NM_024577.3) | 1 | c.[2860C>T];[c.2812C>T] | p.[Arg954*];[His938Tyr] |
SPTLC2 | (NM_004863.3) | 1 | c.1144G>C | p.Gly382Arg |
TRPV4 | (NM_021625.4) | 1 | c.557G>A | p.Arg186Gln |
Total | 51 |