Table 1

Dyygve Melchior Clausen syndrome (DMC) mutations

Nucleotide change		DMC exon		Amino acid change		Consequence on protein		Phenotype		Ethnic origin		Reference
G→C 34 bp 3′ of exon 1		Intron 1				?		DMC		Portuguese		10
Duplication exon 2		Exon 2		S47R +FS		Frameshift and truncation		DMC		Lebanese		This report
C48G		2		Y16X		Truncated		DMC		Dominican		7
C208T		4		R70X		Truncated		DMC		Tamil		This report
IVS 3 194-1G→A		4 (5′ end) splice acceptor				Skipping exon 3		DMC		Lebanese		10
G259A		4		E87K		Missense		SMC		Guamese		7
IVS 4 288-2A→G		5 (5′ end) splice acceptor				Skipping exon 4		DMC		Spanish		10
T396A		5		Y132X		Truncated		DMC		Not stated		7
C580T		7		R194X		Truncated		DMC		Tunisian		6
C610T		7		R204X		Truncated		DMC		Morroccan		6
T656G		8		R219X		Truncated		DMC		Morroccan		6
763delA		8		T254Q		Frameshift and truncation		DMC		Not stated		7
IVS 7-1 T→G		8 (5′end) splice acceptor				Skipping exon 7		SMC		Guamese		7
IVS 10 1125+1G→T		10 (3′end) splice donor				Skipping exon 11 (in frame)		DMC		Morroccan		6
C1363T		12		R455X		Truncation		DMC		Tamil		This report
IVS 11 1252-1G→A		12 (5′end) splice acceptor				Skipping exon 11 (in frame)		DMC		Lebanese		6
A1405T		13		N469Y		Missense		DMC		Not stated		7
C1447T		13		Q483X		Truncated		DMC		Morroccan		6
Repetition 4 copies exon 14		14		A525F+FS		Frameshift and truncation		DMC		Gujerati		This report
1877delA		17		K626N+FS		Frameshift and extension		DMC		Morroccan		6