Table 2. Studies analyzing NKX2-5 in patients with persistent congenital hypothyroidism.

Author	Type of patients	N ofpatients	N of mutation carriers (%)	Remarks
Dentice et al., 2006 [8]	Persistent CH (athyreosis 53; thyroid ectopy 98; thyroid hypoplasia 15; 75CH without goiter)	241	4 (1,7)	Two mutations (p.A119S and p.R25C), present in 3/4 patients, have been reported as a SNP [23].
Al Taji et al., 2007 [33]	Persistent primary non-auto-immune, non-goitre hypothyroidism AND CHD	15	0 (0)
Ramos et al., 2009 [15]	Thyroid hypoplasia or athyreosis	35	0 (0)
Cangul et al., 2009 [32]	Primary non-auto-immune, non-goitre hypothyroidism, from consanguineous families	9	0 (0)	In an additional 130 patients from consanguineous families linkage to the NKX2.5 locus was assumed to be excluded because heterozygosity for the gene was detected (no mutational analysis performed).
Narumi et al., 2010 [35]	Permanent primary CH diagnosed by neonatal screening (thyroid ectopy 37; thyroid aplasia 6; thyroid hypoplasia 8; other 51)	102	0 (0)
Passeri et al., 2011 [14]	CHD and non-autoimmune CH (normal thyroid volume 35; hemiagenesis 1)	36	0 (0)
Hermanns et al., 2011 [30]	nm	nm	1	Case report: the p.S265R variation was identified in a girl with thyroid dysgenesis who also carried a mutation in the PAX8 promoter region.
Brust et al., 2012 [34]	Thyroid dysgenesis (thyroid ectopy 13; hypoplasia 11; athyreosis 3)	27	0 (0)

CHD, Congenital Heart Disease; CH, Congenital Hypothyroidism; nm, not mentioned.