Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1

Table 1 Available clinical symptoms of NF1 patients

Family number	Family history	Patient number	Pedigree number	Age	Gender	Number of café-au-lait spots	Largest diameter of café-au-lait spots	Number of NFs	Largest Diameter of NFs	Plexiform NFs	Axillary/Inguinal Freckling	Location of Skin Lesions
1	Yes	1	II-4	35–39	Female	7	5.5 cm	300–400	3.5 cm	Yes	Yes	Trunk, Neck, Chin, Forehead
		2	III-1	15–19	Male	N/A
		3	I-1	75–79	Male	5	4 cm	200–300	2 cm	Yes	Yes	Trunk, Neck, Chin, Cheek
2	Yes	4	II-5	25–29	Male	13	5.5 cm	10–20	1.5 cm	No	Yes	Trunk
		5	III-4	0–4	Female	3	2.5 cm	0	–	No	No	Trunk, Lower Limbs
		6	I-1	55–59	Male	N/A
3	Yes	7	II-3	50–54	Male	9	6 cm	300–400	2 cm	Yes	Yes	Trunk, Limbs, Neck, Chin
		8	II-2	40–44	Female	N/A
		9	III-1	10–14	Female	N/A
		10	I-2	65–69	Female	3	5 cm	1000–2000	3 cm	Yes	Yes	Trunk, Limbs
4	Yes	11	II-2	25–29	Female	13	4.5 cm	10–20	2 cm	No	Yes	Trunk, Lower Limbs
4	Yes	12	I-1	45–49	Male	14	5 cm	20–30	2 cm	No	Yes	Trunk, Limbs
5	Yes	13	II-2	45–49	Female	12	4 cm	50–100	1.5 cm	No	Yes	Trunk, Lower Limbs, Neck
5	Yes	14	III-1	10–14	Male	N/A
6	No	15	II-1	15–19	Female	28	7 cm	0	–	No	Yes	Trunk, Upper Limbs
7	No	16	II-1	40–44	Female	14	4.5 cm	50–100	1.5 cm	Yes	Yes	Trunk, Limbs
8	No	17	II-1	15–19	Female	34	5 cm	0	–	No	Yes	Trunk, Limbs
9	No	18	II-1	30–34	Female	9	7.5 cm	200–300	2.5 cm	Yes	Yes	Trunk
10	No	19	II-1	30–34	Female	7	3.5 cm	0	–	No	Yes	Trunk, Neck
11	Yes	20	II-1	25–29	Female	16	4 cm	100–200	1.5 cm	No	Yes	Trunk, Neck
11	Yes	21	I-1	45–49	Male	N/A
12	Yes	22	II-1	25–29	Female	8	6.5 cm	100–200	1 cm	No	Yes	Trunk, Limbs, Neck, Forehead
12	Yes	23	I-1	55–59	Male	6	3 cm	200–300	1.5 cm	No	Yes	Trunk, Upper Limbs

ISSN: 1471-2350