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.

Gene	GenBank accession and version number	Neuropathy phenotype	Average coverage	% Bases ≥ 2x coverage	% Bases ≥ 30x coverage
AARS	NM_001605.2	CMT2	642	100.0	100.0
ARHGEF10	NM_014629.2	Slow NCV	620	100.0	97.7
ATP7A	NM_000052.6	dHMN	295	100.0	94.4
BSCL2	NM_001122955.3	dHMN	845	100.0	100.0
CTDP1	NM_004715.4	CCFDN	488	100.0	87.7
DCTN1	NM_001135041.2	dHMN	972	100.0	99.8
DNM2	NM_001005361.2	CMT2 and ICMT	449	100.0	96.6
DYNC1H1	NM_001376.4	CMT2	662	100.0	99.3
EGR2	NM_000399.3	CMT1, DSN, and CMT4	1328	100.0	100.0
FAM134B	NM_001034850.2	HSAN	296	100.0	88.5
FGD4	NM_139241.2	CMT4	410	100.0	100.0
FIG4	NM_014845.5	CMT4	480	100.0	100.0
GAN	NM_022041.3	GAN	472	100.0	93.1
GARS	NM_002047.2	CMT2, dHMN	427	100.0	92.9
GDAP1	NM_001040875.2	CMT2, CMT4, and ICMT	591	100.0	100.0
GJB1	NM_000166.5	CMTX	513	100.0	98.0
HK1	NM_033500.2	CMT4	654	100.0	95.9
HSPB1	NM_001540.3	CMT2 and dHMN	429	100.0	80.4
HSPB3	NM_006308.2	dHMN	535	100.0	100.0
HSPB8	NM_014365.2	CMT2 and dHMN	536	100.0	96.9
IGHMBP2	NM_002180.2	dHMN	540	100.0	99.2
IKBKAP	NM_003640.3	HSAN	488	100.0	99.8
KIF1B	NM_015074.3	CMT2	579	99.9	98.9
LITAF	NM_001136472.1	CMT1	454	100.0	90.0
LMNA	NM_170708.3	CMT2	533	100.0	93.8
MED25	NM_030973.3	CMT2	476	100.0	84.4
MFN2	NM_001127660.1	CMT2	602	100.0	99.3
MPZ	NM_000530.6	CMT1, CMT2, ICMT, and DSN	417	100.0	82.2
MTMR2	NM_016156.5	CMT4	338	100.0	97.5
NDRG1	NM_001135242.1	CMT4	501	100.0	97.2
NEFL	NM_006158.4	CMT1 and CMT2	439	100.0	98.5
NGF	NM_002506.2	HSAN	475	100.0	87.8
NTRK1	NM_001012331.1	HSAN	528	100.0	85.8
PLEKHG5	NM_001042664.1	ICMT and dHMN	463	99.5	95.2
PMP22	NM_153322.2	CMT1, DSN, and HNPP	597	100.0	100.0
POLG	NM_001126131.1	CMT associated [21, 22]	485	100.0	95.5
PRPS1	NM_002764.3	CMTX	373	100.0	99.0
PRX	NM_181882.2	CMT4 and DSN	966	100.0	100.0
RAB7	NM_004637.5	CMT2	486	100.0	98.4
REEP1	NM_001164731.1	dHMN	476	100.0	95.5
SBF2	NM_030962.3	CMT4	443	100.0	97.4
SEPT9	NM_001113493.1	HNA	449	100.0	86.3
SETX	NM_015046.5	dHMN	566	100.0	99.4
SH3TC2	NM_024577.3	CMT4	506	100.0	100.0
SLC12A6	NM_001042497.1	ACCPN	760	100.0	99.3
SOD1	NM_000454.4	CMT associated [19]	485	100.0	100.0
SOX10	NM_006941.3	PCWH	311	98.8	77.5
SPTLC1	NM_001281303.1	HSAN	449	100.0	95.7
TRPV4	NM_001177428.1	CMT2 and dHMN	454	100.0	100.0
WNK1	NM_014823.2	HSAN	883	100.0	99.1
YARS	NM_003680.3	ICMT	475	100.0	95.0

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.