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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
Dysphagia Hepatomegaly VSGP Splenomegaly Ataxia Dementia DNA change protein change Report Status
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]
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]
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
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
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
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
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
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
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
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
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]
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]
  1. M Male, F Female, m month, J Juvenile, L-I Late-Infantile, E-I Early-Infantile, VSGP Vertical supranuclear gaze palsy
  2. R Reported, Not.R Not Reported