Table 1.

Reported Severe Neonatal Respiratory Distress Requiring Mechanical Ventilation Produced by NKX2-1 Mutations.

Patient No.	NKX2-1 Mutations	Chorea	Hypothyroidism	References
		Age at Diagnosis	Age of Onset
1	c.786_787del	3 years	Congenital	Gras, 2012
2	14q13-21 Macrodeletion	2 years	Congenital	Devriendt, 1998
3	C1302A (nonsense)	Childhood	Congenital (agenesis)	Krude, 2002
4	(14)(11.2;13.3) deletion	Infancy	Congenital (hypoplasia)	Krude, 2002
5	Intron 2-2A>G	Infancy	Congenital	Doyle, 2004
6	376-2A>G (intron 2)	5 years	Congenital	Carre, 2009
7	c.278_308del	Died at 10 months	Congenital	Kleinlein, 2011
8	C609A	4 years	Congenital	Salvatore, 2010
9	86insG	4.5 years	2.5 years	Pohlenz, 2002
10	859_860insC	Childhood	16 months	Willemsen, 2005
11	c.915_916insC	2 years	Congenital	This case