Mutation spectrum of Egyptian children with cystic fibrosis

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Table 3 Demographic, phenotype and genotype characteristics of the 27 patients with positive mutations

Pt No	Sex	Age (Y)	Genotype	T repeats	Sweat chloride	Phenotype
1	M	2	Hetero, R347P	T7	79	PS/Pul. Dis.
2	F	3	Homo, 2183AA/G	T7	69	PI/Pul. Dis.
3	F	4	I148T/3199del6	T7/T9	104	PI/Pul. Dis., Rectal prolapse
4	M	6	Hetero, N1303K	T7	71	PI/Pul. Dis.
5	M	7	Homo, DeltaF508	T7	95	PI/Pul. Dis.
6	M	3	Homo, N1303K	T7	70	PI/Pul. Dis.
7	M	11	Homo, DeltaF508	T7	104	PI/Pul. Dis./Nasal polyps/sinusitis
8	M	4	Homo, DeltaF508	T7	88	PI/Pul. Dis./Hepat. Dis.
9	F	14	DeltaF508/W1282X	T7	90	PI/Pul. Dis.
10	M	5	2183AA/G/R1162X	T7	99	PI/Pul. Dis./Nasal polyps
11	M	17	DeltaF508/W1282X	T7	100	PI/Pul. Dis.
12	F	3	Homo, DeltaF508	T7	76	PI/Pul. Dis.
13	M	5	Homo, DeltaF508	T7	105	PI/Pul. Dis.
14	F	8	Homo DeltaF508	T7	102	PI/Pul. Dis./Nasal polyps/sinusitis
15	M	7	Homo, DeltaF508	T7	85	PI/Pul. Dis.
16	M	17	2183AA/G/R1162X	T7	75	Nasal polyps/sinusitis
17	F	5	Homo, DeltaF508	T7	70	PI/Pul. Dis./Hepat. Dis.
18	F	5	Hetero, CFTR del 2,3 (21 kb)	T7	75	PI/Pul. Dis.
19	M	8	Homo, DeltaF508	T7	82	PI/Pul. Dis./sinusitis
20	M	8	Homo, DeltaF508	T7	80	PI/Pul. Dis./Nasal polyps/sinusitis/Hepat. Dis.
21	F	6	I148T/AA2183/G	T7	95	PI/Pul. Dis.
22	M	8	Homo, DeltaF508	T7	100	PI/Pul. Dis./Nasal polyps/sinusitis/Hepat. Dis.
23	M	4	DeltaF508/R1162X	T9	90	PI/Pul. Dis./Hepat. Dis
24	M	3	Homo, A455E	T7	75	PI/Pul. Dis.
25	F	1	Hetero, G551D	T7	110	PI/Pul. Dis./Pseudo Barter syndrome
26	M	5	Homo, DeltaF508	T7	80	PI/Pul. Dis./Nasal polyps/sinusitis
27	M	14	Homo, DeltaF508	T7	95	PI/Pul. Dis./Nasal polyps/sinusitis

Y yes, N no, Pt patient, Y years, M male, F female, FH family history, Pul. Dis. pulmonary disease such as chronic cough, wheezing or recurrent bronchitis, PI pancreatic insufficiency, PS pancreatic sufficiency, Hepat. Dis. hepatic disease such as hepatomegaly, ascites. T7, T5 and T9 refer to the allele variants commonly known as IVS8 Tn repeats. Homo homozygote, Hetero heterozygote