Survey of CF mutations in the clinical laboratory

Huber, Klaus Roland; Mirkovic, Borka; Nersesian, Rhea; Myers, Angela; Saiki, Randall; Bauer, Kurt

doi:10.1186/1472-6890-2-4

BMC Clinical Pathology

Table 2 Genotypes of patients with mutations, final results

From: Survey of CF mutations in the clinical laboratory

Group 1) (patients with symptoms typical for/indicative of CF)
No.:	Diagnosis^a	Sex	Age	Intron 8	16 mut.	29 mut.^b	seq.^c	DGGE^d
1	2 × path. IRT, normal sweat test	f	0	7T/9T	DF508/3849+10kb C-T	x
2	CF, substantiation	f	0	9T/9T	621+1G-T/621+1G-T
3	CF, substantiation	f	1	9T/9T	DF508/DF508	x
4	CF, substantiation	f	5	9T/9T	DF508/DF508	x	x	x
5	CF, substantiation	f	7	9T/9T	DF508/G542X	x		x
6	CF, substantiation, rec. diarrhoe, pancreas insufficiency, pos. sweat test	f	8	9T/9T	DF508/DF508	x
7	CF, substantiation	f	12	9T/9T	DF508/DF508	x
8	CF, substantiation	f	13	9T/9T	DF508/DF508	x
9		f	13	7T/9T	DF508/WT
10	CF, substantiation	f	16	9T/9T	DF508/G542X
11	indicative linkage analysis	f	22	7T/9T	DF508/WT	x
12		f	24	7T/9T	DF508/WT	x
13	bronchiectasis, bronchopulmonal infections since infancy	f	28	7T/9T	DF508/3849+10kbC-T	x
14	pos. sweat test	f	28	9T/9T	DF508/WT	x
15	typical clinic, pos. sweat test	f	31	7T/9T	DF508/WT		x	x
16		f	32	7T/7T	3849+10kb C-T/WT
17	pulmonal course typical of CF	f	32	7T/9T	DF508/WT	x	x	x
18		f	34	7T/7T	G551D/WT		x	x
19		f	41	7T/7T	DF508/WT
20	CF, substantiation	f	56	7T/9T	DF508/3849+10kb C-T	x
21
22	CF, substantiation	m	0	9T/9T	DF508/DF508	x
23		m	1	7T/9T	DF508/WT	x
24	impaired lung function, intestinal complications	m	3	7T/9T	DF508/WT		x	x
25	CF, substantiation	m	5	9T/9T	DF508/DF508
26		m	12	7T/7T	G551D/WT		x	x
27	CF, substantiation	m	17	9T/9T	DF508/DF508
28		m	18	7T/7T	R117H/WT&1466delAATT/1466delAATT		1466delAATT	x
29	pos sweat test	m	20	7T/9T	DF508/WT
30	CF, substantiation	m	25	9T/9T	DF508/DF508
31	.	m	26	5T/9T	DF508/WT
32		m	30	5T/9T	DF508/WT
33	CF, substantiation	m	31	7T/9T	DF508/1248A-G	x	1248 A/G	x
34	2 × pos. sweat tests, bronchopul. infect., azoospermia, pancreatitis	m	31	9T/9T	DF508/WT
35	CF, substantiation	m	33	9T/9T	DF508/DF508	x
36		m	33	7T/9T	DF508/WT
37		m	33	7T/9T	DF508/WT
38		m	38	7T/9T	R117H/G542X
Group 2a) (Patients from IVF clinics)
No.:	Diagnosis	Sex	Age	Intron 8	16 mut.	29 mut. ^b	seq. ^c	DGGE ^d
39		m	24	7T/9T	WT
40		m	25	9T/9T	WT
41		m	28	5T/9T	DF508/WT	x
42		m	28	5T/9T	DF508/WT
43		m	29	5T/9T	DF508/WT	x	x	x
44		m	30	7T/7T	WT	x
45		m	31	5T/9T	DF508/WT	x	x	x
46		m	31	7T/7T	WT	x
47		m	31	7T/9T	WT	x
48		m	33	7T/9T	DF508/WT	x
49		m	34	7T/7T	WT	x
50		m	34	9T/9T	DF508/WT	x
51		m	35	7T/9T	G542X/WT
52		m	36	5T/9T	DF508/WT
53		m	39	5T/9T	DF508/WT	x		x
54		m	40	7T/7T	WT
55		m	40	5T/9T	DF508/WT	x	x	x
56		m	44	9T/9T	WT
57		m	45	7T/7T	WT	x
58		m	47	7T/7T	WT
Group 3) (Patients with relatives having CF)
No.:	Diagnosis	Sex	Age	Intron 8	16 mut.	29 mut. ^b	seq. ^c	DGGE ^d
59		f	42	7T/7T	3849+10kb C-T/WT	x
60		f	15	7T/9T	DF508/WT	x
61		f	20	7T/9T	DF508/WT	x
62		f	23	7T/9T	DF508/WT	x
63		f	25	7T/9T	DF508/WT	x	x	x
64		f	26	7T/9T	DF508/WT
65		f	32	7T/9T	DF508/WT	x
66		f	40	7T/9T	DF508/WT	x		x
67		f	65	9T/9T	DF508/WT
68		f	30	7T/9T	DF508/WT	x
69		m	14	9T/9T	DF508/WT	x
70		m	16	7T/9T	DF508/WT
71		m	25	7T/9T	DF508/WT	x	x	x
72		m	28	5T/9T	DF508/WT	x
73		m	32	7T/9T	DF508/WT	x		x
74		m	45	7T/9T	DF508/WT	x		x
75		m	48	7T/9T	DF508/WT	x
76		m	69	7T/9T	DF508/WT
77		m	30	7T/9T	G542X/WT	x		x
78		m	15	7T/7T	G551D/WT	x

Details for diagnoses, number of mutations analysed, methods used, and other specifics for individuals with found mutations within the three groups are shown. A complete documentation comprising all persons examined is available upon request. Asterisks denote samples that were tested additionally to the Roche assay. In two cases, mutations were found only by sequencing, these mutations are shown in the column "seq". Other than that, all mutations were found merely by the Roche assay. ^aThe diagnoses are shown for the individuals specified. In the cases, where no diagnosis are given, the referrals were based on clinical symptoms suspicious for CF. No special diagnosis is given for the group of patients from IVF clinics and probands with relatives having CF. ^bThe asterisk denotes individuals that were analysed for 29 mutations (see table 1). ^cFragments (one to five) were sequenced when the DGGE analysis ^d showed bands indicating heterozygosity.

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ISSN: 1472-6890

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