BioMed Research International / 2014 / Article / Tab 1

Research Article

Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing

Table 1

Sequence capture performance results for the 51 neuropathy genes included in the panel.

GeneGenBank accession and version numberNeuropathy phenotypeAverage coverage% Bases ≥ 2x coverage% Bases ≥ 30x coverage

AARS NM_001605.2CMT2642100.0100.0
ARHGEF10 NM_014629.2Slow NCV620100.097.7
ATP7A NM_000052.6dHMN295100.094.4
BSCL2 NM_001122955.3dHMN845100.0100.0
CTDP1 NM_004715.4CCFDN488100.087.7
DCTN1 NM_001135041.2dHMN972100.099.8
DNM2 NM_001005361.2CMT2 and ICMT449100.096.6
DYNC1H1 NM_001376.4CMT2662100.099.3
EGR2 NM_000399.3CMT1, DSN, and CMT41328100.0100.0
FAM134B NM_001034850.2HSAN296100.088.5
FGD4 NM_139241.2CMT4410100.0100.0
FIG4 NM_014845.5CMT4480100.0100.0
GAN NM_022041.3GAN472100.093.1
GARS NM_002047.2CMT2, dHMN427100.092.9
GDAP1 NM_001040875.2CMT2, CMT4, and ICMT591100.0100.0
GJB1 NM_000166.5CMTX513100.098.0
HK1 NM_033500.2CMT4654100.095.9
HSPB1 NM_001540.3CMT2 and dHMN429100.080.4
HSPB3 NM_006308.2dHMN535100.0100.0
HSPB8 NM_014365.2CMT2 and dHMN536100.096.9
IGHMBP2 NM_002180.2dHMN540100.099.2
IKBKAP NM_003640.3HSAN488100.099.8
KIF1B NM_015074.3CMT257999.998.9
LITAF NM_001136472.1CMT1454100.090.0
LMNA NM_170708.3CMT2533100.093.8
MED25 NM_030973.3CMT2476100.084.4
MFN2 NM_001127660.1CMT2602100.099.3
MPZ NM_000530.6CMT1, CMT2, ICMT, and DSN417100.082.2
MTMR2 NM_016156.5CMT4338100.097.5
NDRG1 NM_001135242.1CMT4501100.097.2
NEFL NM_006158.4CMT1 and CMT2439100.098.5
NGF NM_002506.2HSAN475100.087.8
NTRK1 NM_001012331.1HSAN528100.085.8
PLEKHG5 NM_001042664.1ICMT and dHMN46399.595.2
PMP22 NM_153322.2CMT1, DSN, and HNPP597100.0100.0
POLG NM_001126131.1CMT associated [21, 22] 485100.095.5
PRPS1 NM_002764.3CMTX373100.099.0
PRX NM_181882.2CMT4 and DSN966100.0100.0
RAB7 NM_004637.5CMT2486100.098.4
REEP1 NM_001164731.1dHMN476100.095.5
SBF2 NM_030962.3CMT4443100.097.4
SEPT9 NM_001113493.1HNA449100.086.3
SETX NM_015046.5dHMN566100.099.4
SH3TC2 NM_024577.3CMT4506100.0100.0
SLC12A6 NM_001042497.1ACCPN760100.099.3
SOD1 NM_000454.4CMT associated [19] 485100.0100.0
SOX10 NM_006941.3PCWH31198.877.5
SPTLC1 NM_001281303.1HSAN449100.095.7
TRPV4 NM_001177428.1CMT2 and dHMN454100.0100.0
WNK1 NM_014823.2HSAN883100.099.1
YARS NM_003680.3ICMT475100.095.0

ACCPN = agenesis of the corpus callosum with peripheral neuropathy; CCFDN = cataract, congenital, with facial dysmorphism and neuropathy; CMT1 = demyelinating Charcot-Marie-Tooth disease with autosomal dominant inheritance; CMT2 = axonal Charcot-Marie-Tooth disease; CMT4 = demyelinating Charcot-Marie-Tooth disease with autosomal recessive inheritance; CMTX = Charcot-Marie-Tooth disease, X-linked inheritance; dHMN = distal hereditary motor neuronopathy; DSN = Dejerine-Sottas neuropathy; GAN = giant axonal neuropathy; HNPP = hereditary neuropathy with liability to pressure palsies; HSAN = hereditary sensory and autonomic neuropathies; ICMT = intermediate Charcot-Marie-Tooth disease; NCV = nerve conduction velocity; PCWH = peripheral demyelinating neuropathy, central dysmyelination.

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