Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease

Table 1

Phenotype in CMT patients with pathogenic or potentially pathogenic CNVs.

Patient ID	CMT type	Age of onset	CNV type	Genomic coordinates (Hg19)	Size	Probes	Genes involved
Pathogenic CNVs
0784	CMT1	40	Duplication	Chr17:14,100,118-15,442,066	1341 kb	68	COX10, CDRT15, HS3ST3B1, MGC12916, CDRT7, PMP22, TEKT3, CDRT4, FAM18B2-CDRT4, FAM18B2
Potentially pathogenic CNVs
0886	CMT2	6	Duplication	Chr7:146,705,271-146,748,724	43 kb	5	CNTNAP2
0217	CMT2	39	Deletion	Chr6:129,040,519-129,222,690	182 kb	9	LAMA2
0619	CMT1	12	Deletion	Chr5:9,129,755-9,257,708	128 kb	11	SEMA5A
Probably benign CNVs
Total of 91 CNVs among all 44 patients
Benign CNVs
Total of 493 CNVs among all 44 patients

CMT1 = demyelinating Charcot-Marie-Tooth; CMT2 = axonal Charcot-Marie-Tooth; hg = human genome build; kb = kilo bases.