Table 2

Characteristics of 24 neonates with CFTR mutations other than the 15 routinely sought in IRT positives or the 5T allele. Patients 1A, 2A, 3A, 4A, 5A, 6A, 1B, 8B, and 10B have been partially reported elsewhere⁷

No	IRT at birth (μg/l)	Retested IRT (μg/l)	Sweat Cl⁻(mEq/kg)	Sweat Na⁺(mEq/kg)	Weight Z score at birth	Weight Z score at sweat test	CFTR mutation from a panel of 15 mutations	CFTR mutation from DGGE in cis	CFTR mutation from DGGE in trans	CFTR mutation from DGGE, unknown phase	Poly T	TG	M470V
Group A
1A	144	37	30	29	0.89	−0.74	R1162X		R117H		7/7	10/10	M M
2A	106	34	21	10	0.07	−0.01	ΔF508		E527G		7/9	11/10	M V
3A	123	66	20	15	0.26	−0.10	ΔF508		1716G/A		7/9	11/10	M M
4A		133		65		10		14		0.51		0.96		R1162X	3041-71G/C	7/9	10/11	M M
4A		133		65		10		14		0.51		0.96		R1162X	4002A/G	7/9	10/11	M M
5A	111	15	12	16	0.31	0.10	G542X			1716G/A	7/9	10/10	M M
6A	107	31	12	16	2.38	1.42	N1303K	2622+14G/A			7/9	11/10	M V
Group B
1B	105	39	18	19	−0.04	−0.54	ΔF508		Y301C		7/9	11/10	M V
2B	287	199	36	18	−0.71	−0.74	1717-1G→A		D1152H		7/7	10/11	M V
3B	139	—	29	31	—	—	1717-1G→A		1716G/A		7/7	10/10	M M
4B	158	73	22	15	0.16	−0.46	ΔF508		M1137V		9/9	10/10	M M
5B	207	—	23	22	—	—	R553X		L997F		7/9	12/10	M V
6B	150	57	15	15	0.91	−1.31	G542X			L997F	9/9	10/10	M V
7B	100	29	19	15	−0.59	−0.21	ΔF508			L997F	9/9	10/12	M V
8B	103	—	26	26	—	—	N1303K	2622+14G/A			5/9	11/10	M M
9B	113	47	16	15	1.93	1.37	ΔF508				5/9	12/10	M V
10B	108	—	14	11	—	—	ΔF508				5/9	11/10	M M
Group C
1C		120		36		13		14		−0.71		0.11		—	L997F	7/7	10/11	M V
1C		120		36		13		14		−0.71		0.11		—	F1052V	7/7	10/11	M V
2C	161	—	26	21	—	—	—			R117H	7/7	10/11	M V
3C	144	60	14	17	−0.11	−0.04	—			L749L	7/7	11/11	V V
4C	140	15	11	11	−0.07	0.06	—			R75Q	7/7	11/11	V V
5C	96	7	16	15	−1.33	−0.16	—			1716G/A	7/7	10/11	M V
6C	115	59	12	9	−0.26	0.34	—			F1052V	7/9	10/10	M M
7C	161	30	11	11	0.35	−0.30	—			T1424T	7/7	11/12	M V
8C	142	59	6	9	1.11	−0.53	—				5/7	12/10	M V