Table 1

Mutation screening of TBX1 in 105 patients

Position	Nucleotide change^1-150	Amino acid change	No of patients^1-151	No of controls^1-151	Patient	Diagnosis	Parents
(A) Rare variants
Exon 2	39nt 5′ to ATG C→T	No	1/105	0/101	p23	DGS	Mother is carrier
Exon 5	576 C→T	192(Arg/Arg)	1/105	0/101	p60	TA	Not available
Exon 7	886 C→A	296(Arg/Arg)	1/105	1/101	p59	IAA typeB	Not available
Exon 9	1049 G→A	350(Gly/Asp)	1/105	0/101	Ap22	AAA	Not available
	1187 C→T	396(Pro/Leu)	1/105	0/100	Ap18	AAA	Not available
	1274-1281delACTATCTC	frameshift	1/105	0/139	p13	DGS	Mother is carrier
	1334-1348del15bp^1-152	445-449delGYHPH	1/105	0/139	p23	DGS	Father is carrier
	1371-1372insCAC	457-458insHis	1/105	0/139	p22	VCFS	Mother is carrier
	1399-1427dup30bp^1-153	466-476dup10Ala	1/105	0/139	p46	IAA	Not available
	1404-1412delCGCTGCCGC	468-471del3Ala	1/105	0/139^1-154	p65	DGS/VCFS	Mother is carrier
(B) Common polymorphisms
Exon 2	75nt 5′to ATG G→C	No	38/105	35/101
Exon 3	297 G→A	99(Ala/Ala)	11/105	1/11
Exon 4	420 T→C	140(Phe/Phe)	4/105	2/24
Exon 5	664 C→T	222(Leu→Leu)	37/105	5/10
Intron 7	46nt to splice acceptor	No	15/105	1/10
Exon 8	933 A→G	311(Ala/Ala)	37/105	4/10
Exon 9	1059 A→G	353(Ala/Ala)	15/105	11/101
	1189 C→A	397(His/Asn)	37/105	39/100

↵1-150 nt1 refers to the first nucleotide of the initiation codon ATG.
↵1-151 The numbers of patients or controls with polymorphisms or variants are reported for heterozygotes. Complete genotyping was not performed in this study.
↵1-152 Deletion of GCTACCACCCGCACG.
↵1-153 Duplication of GCCGCCGCTGCCGCAGCTGCCGCGGCCGCC.
↵1-154 Two normal subjects were found, each with a different 9 bp deletion in the same region.