Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations

Abtahi, Rezvan; Karimzadeh, Parvaneh; Aryani, Omid; Akbarzadeh, Diba; Salehpour, Shadab; Rezayi, Alireza; Tonekaboni, Seyed Hassan; Emameh, Reza Zolfaghari; Houshmand, Massoud

doi:10.1186/s41065-022-00224-1

Table 1 Clinical and molecular data encountered in 35 NPC patients from Iran

From: Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations

Patient No	Gender	Age	Age of onset	Clinical phenotype	Filipin test	Clinical data						Genotype				Reference
Patient No	Gender	Age	Age of onset	Clinical phenotype	Filipin test	Dysphagia	Hepatomegaly	VSGP	Splenomegaly	Ataxia	Dementia	DNA change	protein change	Report	Status	Reference
1	M	10	6	J	+	+	Yes	Yes	Yes	Severe	Severe	c.2776G > A	p.Ala926Thr	R	homo	[23]
2	F	8	3	L-I	+	+	Yes	Yes	Yes	Severe	Severe	c.2920-2923delcctg	p.Pro974profsTer8	Not.R	homo	new
3	M	13	10	J	+	+	No	No	Yes	Severe	Severe	c.1970G > A	p.Gly657Asp	Not.R	homo	new
4	M	6	2	E-I	+	+	Yes	Yes	Yes	Severe	Severe	c.1990G > A	P.Val664Met	R	hetero	[18]
4	M	6	2	E-I	+	+	Yes	Yes	Yes	Severe	Severe	c.2821 T > C	p.Ser941Pro	Not.R	hetero	new
5	F	12	5	L-I	+	+	Yes	Yes	Yes	Severe	Severe	c.506A > T	p.Asn169Ile	R	homo	[24]
6	M	15	10	J	+	+	Yes	Yes	Yes	Severe	Severe	c.1990G > A	P.Val664Met	R	hetero	[18]
6	M	15	10	J	+	+	Yes	Yes	Yes	Severe	Severe	c.3632 T > A	p.Val1211Glu	Not.R	hetero	new
7	M	5.5	1 m*	E-I	+	+	Yes	Yes	Yes	Severe	Severe	c.2821 T > C	p.Ser941Pro	Not.R	hetero	new
7	M	5.5	1 m*	E-I	+	+	Yes	Yes	Yes	Severe	Severe	c.2872C > G	p.Arg958Gly	Not.R	hetero	new
8	M	23	11	J	+	+	Yes	Yes	Yes	No	No	c.2821 T > C	p.Ser941Pro	Not.R	hetero	new
8	M	23	11	J	+	+	Yes	Yes	Yes	No	No	c.2872C > G	p.Arg958Gly	Not.R	hetero	new
9	F	7	3 m	E-I	+	+	Yes	Yes	Yes	Severe	Severe	c.406C > T	p.Gln136Ter	Not.R	homo	new
10	F	12	5	L-I	+	+	Yes	Yes	Yes	No	No	c.2821 T > C	p.Ser941Pro	Not.R	hetero	new
10	F	12	5	L-I	+	+	Yes	Yes	Yes	No	No	c.2872C > G	p.Arg958Gly	Not.R	hetero	new
11	M	3	1 m	E-I	+	+	Yes	Yes	Yes	Severe	Severe	c.2776G > A	p.Ala926Thr	R	homo	[23]
12	F	20	9	J	+	+	Yes	Yes	Yes	Severe	Severe	c.542C > A	p.Ala181Asp	Not.R	hetero	new
12	F	20	9	J	+	+	Yes	Yes	Yes	Severe	Severe	c.2821 T > C	p.Ser941Pro	Not.R	hetero	new
13	F	11	4	L-I	+	+	Yes	Yes	Yes	Severe	Severe	c.2821 T > C	p.Ser941Pro	Not.R	hetero	new
13	F	11	4	L-I	+	+	Yes	Yes	Yes	Severe	Severe	c.2872C > G	p.Arg958Gly	Not.R	hetero	new
14	M	6	6 m	E-I	+	+	Yes	Yes	Yes	Mild	Mild	c.551G > A	p.Cys184Tyr	R	homo	[25]
15	F	22	12	J	+	+	No	Yes	Yes	Mild	Mild	c.1993C > G	p.Leu665Val	Not.R	hetero	new
15	F	22	12	J	+	+	No	Yes	Yes	Mild	Mild	c.2821 T > C	p.Ser941Pro	Not.R	hetero	new
16	M	4.5	2 m	E-I	+	+	Yes	Yes	Yes	Severe	Severe	c.3100G > A	p.Gly1034Arg	R	homo	[3]
17	M	9	1	E-I	+	+	Yes	Yes	Yes	Severe	Severe	c.1192C > T	P.His398Tyr	R	homo	[26]
18	M	17	5	L-I	+	+	Yes	Yes	Yes	Severe	Severe	c.2821 T > C	p.Ser941Pro	Not.R	hetero	new
18	M	17	5	L-I	+	+	Yes	Yes	Yes	Severe	Severe	c.3632 T > A	p.Val1211Glu	Not.R	hetero	new
19	F	25	13	J	+	+	No	Yes	Yes	Mild	Mild	c.2872C > G	p.Arg958Gly	Not.R	hetero	new
19	F	25	13	J	+	+	No	Yes	Yes	Mild	Mild	c.3632 T > A	p.Val1211Glu	Not.R	hetero	new
20	F	21	13	J	+	+	Yes	Yes	Yes	Mild	Mild	c.551G > A	p.Cys184Tyr	R	homo	[25]
21	F	11	7	J	+	+	Yes	Yes	Yes	Severe	Severe	c.1990G > A	P.Val664Met	R	hetero	[18]
21	F	11	7	J	+	+	Yes	Yes	Yes	Severe	Severe	c.3632 T > A	p.Val1211Glu	Not.R	hetero	new
22	M	2	2 m	E-I	+	+	Yes	Yes	Yes	No	No	c.1970G > A	p.Gly657Asp	Not.R	homo	new
23	F	16	9	J	+	+	Yes	Yes	Yes	Severe	Severe	c.1970G > A	p.Gly657Asp	Not.R	homo	new
24	F	6	3.5	L-I	+	+	Yes	Yes	Yes	Severe	Severe	c.3126delC	p.His1042GlnfsTer14	Not.R	homo	new
25	F	2.5	7 m	E-I	+	+	Yes	Yes	Yes	Severe	Severe	c.1070C > T	p.Ser357Leu	R	homo	[27]
26	M	3	3 m	E-I	+	+	Yes	Yes	Yes	Severe	Severe	c.3100G > A	p.Gly1034Arg	R	homo	[3]
27	F	17	13	J	+	+	Yes	Yes	Yes	Mild	Mild	c.1415 T > C	p.Leu472Pro	R	homo	[28]
28	M	5	1	E-I	+	+	Yes	Yes	Yes	Severe	Severe	c.3100G > A	p.Gly1034Arg	R	homo	[3]
29	F	7.5	5	L-I	+	+	Yes	Yes	Yes	Severe	Severe	c.1433A > C	p.Asn478Thr	R	homo	[26]
30	F	2	1.5	E-I	+	+	Yes	Yes	Yes	Severe	Severe	c.1433A > C	p.Asn478Thr	R	homo	[26]
31	M	27	10	J	+	+	Yes	No	Yes	No	No	c.1180 T > C	p.Tyr394His	R	homo	[26]
32	M	8	2.5	L-I	+	+	Yes	Yes	Yes	Severe	Severe	c.2037delG	p.Leu680CysfsTer3	Not.R	homo	new
33	M	19	13	J	+	+	No	Yes	Yes	Mild	Mild	c.1192C > T	P.His398Tyr	R	homo	[26]
34	M	12	7	J	+	+	Yes	No	Yes	Severe	Severe	c.1433A > C	p.Asn478Thr	R	homo	[26]
35	F	8.5	4	L-I	+	+	Yes	Yes	Yes	Severe	Severe	c.1415 T > C	p.Leu472Pro	R	homo	[28]

M Male, F Female, m month, J Juvenile, L-I Late-Infantile, E-I Early-Infantile, VSGP Vertical supranuclear gaze palsy
R Reported, Not.R Not Reported

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ISSN: 1601-5223

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