Table 2 Summary of the genotypes and phenotypes of patients with NF1.

From: Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study

Patient	Family			ACMG/AMP	Clinical findings									Family History	Follow-up
Num.	Num.	Variant	Protein	classification	Sex	Age of first visit	Skin	Eye	Bone	Benign tumor	Malignant tumor	Neurological	Other	(Yes/No)	days (days)
1	1	c.206_207del	p.Arg69Asnfs*7	P	F	32	CS, AF, CN	LN	—	—	—	—	—	Yes	175
2	2	c.311 T > G	p.Leu104*	P	M	76	CS, AF, CN	—	—	—	GIST	—	—	Yes	54
3	3	c.311dup	p.Leu104Phefs*3	LP	M	31	CS, AF, CN	—	—	PN	MPNST	—	—	Yes	856
4	4	c.438_439delinsA	p.Ser146Argfs*19	LP	F	13	CS	—	—	PN	—	—	—	No	786
5	5	c.574 C > T	p.Arg192*	LP	F	12	CS, AF	—	—	—	—	—	—	Yes	184
6	6	c.625 C > T	p.Gln209*	P	M	2	CS, AF, CN	—	—	Sch, PN	—	—	—	No	807
7	7	c.681_682delinsGT	p.Tyr227_Pro228delins*	LP	F	12	CS, AF, CN	—	Sco	—	—	LD	—	No	84
8	8	c.943 C > T	p.Gln315*	P	F	48	CS, AF, CN	—	Sco	PN	—	—	—	Yes	154
9	9	c.1062+1 G > A	NA	P	M	16	CS, AF	—	—	—	—	ASD	HT	Yes	287
10	-	c.1062+1 G > A	NA	P	M	46	CS, AF	—	—	—	—	—	HT	Yes	119
11	10	c.1260+5 G > C	NA	LP	M	45	CS, AF, CN	—	LBD	Sch	PCC	—	HT	Yes	406
12	11	c.1527+4_1527+7del	NA	P	F	59	CS, AF, CN	—	—	Sch	DPC	—	HT	Yes	245
13	12	c.1748 A > G	p.Lys583Arg	P	M	58	CS, AF, CN	—	—	PN	—	—	HT	Yes	147
14	-	c.1748 A > G	p.Lys583Arg	P	F	63	CS, AF, CN	—	—	—	BC	—	HT	Yes	231
15	13	c.2041 C > T	p.Arg681*	P	M	48	CS, AF, CN	—	Sco	—	LMS, BT	—	SS, HT	No	189
16	14	c.2734 C > T	p.Gln912*	P	F	11	CS	LN	Sco	PN	—	Epi	—	No	464
17	15	c.2914del	p.Leu972*	LP	F	52	CS, AF, CN	—	Sco	PN	—	—	—	Yes	1008
18	16	c.3198–2 A > G	NA	P	F	61	CS, AF, CN	—	—	Sch, PN	MPNST	—	HT	Yes	989
19	-	c.3198-2 A > G	NA	P	F	35	CS, AF, CN	—	—	Sch, PN	—	—	—	Yes	917
20	17	c.3888 T > A	p.Tyr1296*	P	F	61	CS, AF, CN	—	BL	PN	—	—	HT	No	211
21	18	c.3916 C > T	p.Arg1306*	P	F	39	CS, AF, CN	—	—	—	—	—	—	No	182
22	19	c.3916 C > T	p.Arg1306*	P	F	57	CS, AF, CN	—	—	—	BC	—	—	Yes	109
23	20	c.3947_3948del	p.His1316Argfs*2	P	M	27	CS, AF, CN	LN,OPG	BL	PN	—	—	—	Yes	294
24	21	c.4812 C > A	p.Tyr1604*	P	F	22	CS, AF, CN	LN	Sco	PN	—	—	—	Yes	995
25	-	c.4812 C > A	p.Tyr1604*	P	F	27	CS, AF, CN	—	—	—	—	—	—	Yes	217
26	22	c.4914_4917del	p.Lys1640Glyfs*36	P	M	5	CS, AF	—	—	Sch, PN	—	ADHD, LD, Epi	—	Yes	371
27	-	c.4914_4917 = /del	p.Lys1640Glyfs*36	P	M	33	CS, AF	—	—	—	—	—	—	Yes	371
28	23	c.5234 C > G	p.Ser1745*	P	F	53	CS, AF, CN	—	—	—	BC	—	—	No	91
29	24	c.6999+2 T > C	NA	P	M	9	CS, AF	LN	—	Sch, PN	—	—	—	No	784
30	25	c.7535del	p.Asn2512Thrfs*15	LP	F	18	CS, AF	LN	—	Sch	—	—	—	No	1057
31	26	c.7739 C > A	p.Ser2580*	P	M	3	CS	LN	—	—	—	LD	—	Yes	0
32	27	c.7739 C > A	p.Ser2580*	P	F	39	CS, AF, CN	—	—	Sch	—	—	—	Yes	0
33	28	c.7770_7771dup	p.Asp2591Valfs*13	LP	M	16	CS, AF, CN	—	—	PN	—	ADHD	HT	No	238
34	29	arr[GRCh37]17q11.2(29526577_29602157) x1		P	M	7	CS, AF	LN	Sco	—	—	ADHD	—	No	546
35	30	arr[GRCh37]:17q11.2(29033882_30326958) x1		P	M	27	CS, AF, CN	—	Sco	Sch	—	LD	—	No	434
36	31	arr[GRCh37]17q11.2(29033882_30367214) x1		P	M	22	CS, AF, CN	LN	S,LBD	Sch, PN	GIST	ADHD, LD, ASD	HT	No	1029

ACMG/AMP classification, P Pathogenic, LP Likely pathogenic, Sex: F Female, M Male.
Skin, CS Café-au-lait spots, AF Axillary freckling, CN Cutaneous neurofibroma.
Eye, LN Lisch nodules, OPG Optic pathway glioma.
Bone, Sco Scoliosis, LBD Limb bone deformity, BL Bone loss.
Benign tumor, Sch Schwannoma, PN Plexiform neurofibroma.
Malignant tumor, MPNST Malignant peripheral nerve sheath tumor, BC Breast cancer, GIST Gastrointestinal stromal tumor, PCC Pheochromocytoma, DPC duodenal papillary cancer, LMS Leiomyosarcoma, BT Bone tumor.
Neurological, ADHD Attention deficit hyperactivity disorder, LD Learning disability, ASD Autism Spectrum Disorder, EPi Epilepsy.
Other, SS Short stature, HT Hypertension.

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Table 2 Summary of the genotypes and phenotypes of patients with NF1.

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