Table 1.

Overview of identified NKX2-1 deletions and intragenic mutations

No.	DNA sequence	Size	Protein localisation	Protein level	Inheritance		Phenotype
						Affected family members*	Thyroid dysfunction	Choreoathetosis/ muscular hypotonia	Pulmonary malfunction	Sex
1	chr14:g (36042742_36142540)del	99 798 bp	Entire protein	p.0	AD	M 2	Yes	Yes	Yes	M
2	chr14:g (35138127_37502915)del	2 364 788 bp	Entire protein	p.0	AD	M 1	Yes	Yes	No	M
3	chr14:g (35221080_36553158)del	1 332 078 bp	Entire protein	p.0	n/a	n/a	No	Yes	No	F
4	chr14:g (36058432_36825446)del	767 014 bp	Entire protein	p.0	n/a	n/a	Yes	Yes	No	M
5	chr14:g (34071433_36246414)del	2 174 981 bp	Entire protein	p.0	n/a	n/a	Yes	Yes	No	F
6	chr14:g (31766511_46944545)del	15 178 034 bp	Entire protein	p.0	n/a	n/a	Yes	Yes	No	M
7	chr14:g (35883857_38226260)del	2 342 403 bp	Entire protein	p.0	AD	F 2	Yes	Yes	Yes	M
8	chr14:g (35989750_36754641)del	764 891 bp	Entire protein	p.0	De novo	Nil	Yes	Yes	Yes	F
9	chr14:g (35257445_35257464 + 35257487_35984627)del	727 181 bp	Del excluding NKX2-1	p.?	De novo	Nil	Yes	Yes	No	F
10	chr14:g (35801941_35878529)del	76 588 bp	Del excluding NKX2-1	p.?	AD	M 2/F 2	No	Yes	No	M
11	c.793delA		NK2	p.Lys265LysfsX87	De novo	Nil	Yes	Yes	No	M
12	c.712delGG		NK2	p.Gly238ArgfsX170	AD	F 2	Yes	Yes	Yes	M
13	c.339delG		TN-HD	p.Trp113CysfsX16	De novo	Nil	No	Yes	No	M
14	c.796delGA		NK2	p.Asp266Argfs142X	De novo	Nil	Yes	Yes	No	F
15	c.157insC		TN-HD	p.Met53HisfsX355	De novo	Nil	Yes	Yes	Yes	F
16	c.866_883delinsCTACA		NK2-X	p.Gln289ProfsX59	De novo	Nil	Yes	Yes	Yes	M
17	c.544C>T		HD	p.Gln182X	De novo	Nil	Yes	Yes	Yes	F
18	c.261C>A		TN-HD	p.Cys87X	AD	F 2	Yes	Yes	Yes	M
19	c.160C>T		TN-HD	p.Gln55X	Father n/a; mother WT	n/a	Yes	Yes	No	F
20	c.522C>G		HD	p.Tyr174X	n/a	n/a	Yes	Yes	Yes	M
21	c.338G>A		TN-HD	p.Trp113X	n/a	n/a	Yes	Yes	No	M
22	c.236C>A		TN-HD	p.Ser79X	AD	F 2	Yes	Yes	No	F
23	c.204C>G		TN-HD	p.Tyr68X	AD	F 1	Yes	Yes	Yes	M
24	[c.608C>G]+[c.613G>T]		HD	[p.Thr203Arg]+[p. Val205Phe]	AD/de	F 3	Yes	Yes	No	M
25	c.613G>T		HD	p.Val205Phe	De novo	Nil	Yes	Yes	No	F
26	c.373+4A>G/r.373ins4		TN-HD (splice donor site)	p.Ile155SerfsX126	De novo	Nil	Yes	Yes	Yes	M
27	c.373+5G>C/r.338_373del35		TN-HD (splice donor site)	p.Trp143CysfsX138	n/a	n/a	Yes	Yes	No	M
28	chr14:g (32446471_41666818)del	9.2 Mbp	Entire protein	p.0	De novo	Nil	Yes	Yes	Yes	M
29	c.585nsGG		HD	p.Leu195GlyfsX3	De novo	Nil	Yes	Yes	Yes	M
30	c.506C>A		HD	p.Ser169X	n/a	n/a	Yes	Yes	No	M
31	c.261C>A		TN-HD	p.Cys87X	AD	F 1	Yes	Yes	Yes	M
32	c.613G>T		HD	p.Val205Phe	De novo	Nil	Yes	Yes	Yes	M

Nomenclature for mutations according to recommendations of the Human Genome Variation Society (http://www.hgvs.org/mutnomen/); reference sequence REFSEQ Isoform 2 NM_003317.3; P, entire protein; HD, homeodomain; NK2, NK2-specific domain; AD, autosomal-dominant; n/a, information not available; TN-HD, sequence between tin- and homeodomain; M, male; F, female;

^*excluding index patient; mutations 29–32 as reported previously by authors.⁸

The italicised values refer to cases that have not been identified in the present genotyping study, but earlier in the Krude et al 2002 study⁸.