Table 1.

Summary of families with two newly reported tandem duplications at the MCDR3 locus and previously identified V2 variant at the MCDR1 locus.

Family number	Family ID	Origin	Phenotype	Experimental procedure	Causative allele change	Nucleotide change	Number of affected family members analysed	Number of unaffected family members analysed	Total number of family members analysed
1	GC1980614	Latvian	NCMD	SNP, aCGH, WGS, PCR/Sanger	chr5:4391377–4436535	45158 bp duplication	5	1	6
2	GC1562611	British	NCMD	SNP, aCGH, WGS, PCR/Sanger	chr5:4396927–4440442	43515 bp duplication	9	8	17
3	GC15119	British	NCMD	SNP, aCGH, WGS, PCR/Sanger	chr5:4396927–4440442	43515 bp duplication	4	0	4
4	GC13840	British	NCMD	SNP, WGS, PCR/Sanger	chr5:4396927–4440442	43515 bp duplication	3	0	3
5	GC19075	British	NCMD	SNP, WGS, PCR/Sanger	chr5:4396927–4440442	43515 bp duplication	3	0	3
6	GC15475	British	NCMD	SNP, WGS, PCR/Sanger	chr5:4396927–4440442	43515 bp duplication	1	0	1
7	GC11709	British	NCMD	SNP, WGS, PCR/Sanger	chr5:4396927–4440442	43515 bp duplication	1	0	1
8	GC16913	British	NCMD	PCR/Sanger	chr5:4396927–4440442	43515 bp duplication	1	0	1
9	GC4092	British	NCMD	PCR/Sanger	chr5:4396927–4440442	43515 bp duplication	1	0	1
10	GC23501	British	NCMD	PCR/Sanger	chr5:4396927–4440442	43515 bp duplication	2	1	3
11	GC15416	British	NCMD	SNP, PCR/Sanger	chr6:100040987	G > C (V2)	2	0	2
12	GC37227	British	NCMD	SNP, PCR/Sanger	chr6:100040987	G > C (V2)	12	8	20
13	GC172259, 15	French	NCMD	SNP, PCR/Sanger	chr6:100040987	G > C (V2)	12	15	27
						Total	56	33	89

Genomic coordinates refer to GRCh37/hg19 assembly. SNP, aCGH, WGS, PCR/Sanger indicate Illumina SNP array, array-based comparative genomic hybridization, whole-genome sequencing and Sanger Sequencing, respectively. Five affected members from five additional NCMD families were also tested for the presence of previously reported SNVs V1-V3¹⁵ and the two tandem duplications found in this study, but none of these affected individuals was found to carry any of the variants.