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. 2016 Apr 14;7(2):80–86. doi: 10.1159/000445397

Table 1.

List of molecularly characterized PD patients and their clinical manifestations

Patient ID Exon Intron Mutation Effect on protein Clinical phenotype
 Ethnicity/residence Reference
skin ulcers ID/DD FI FD SM additional features
1a 2 202–2A→T/202–2A→T absent exon 3; alternative splicing + + + + – microcephaly, short stature, osteopenia, genu valgum Turkey Besio et al., 2015
2a 2 202–2A→T/202–2A→T absent exon 3; alternative splicing + + + + – microcephaly, short stature, genu valgum Turkey Besio et al., 2015
3 3 329+ 4de1/329+ 4del + – – + – microcephaly, short stature Turkey Besio et al., 2015
4 3 329+ 4de1/329+ 4del + + + + – microcephaly, osteopenia Turkey Besio et al., 2015
5 4 IVS4– 1G→C/null allele absent exon 5 + + + – – Oklahoma Ledoux et al., 1994
6 6 IVS6–2A→G/IVS6–2A→G absent exon 7 + + – – – SLE Canada Ledoux et al., 1994
7 7 IVS7–1G→A/IVS7–ss1G→A alternative splicing + + + + + anemia, telangiectasia, photosensitivity Italy Forlino et al., 2002
8 7 IVS7–1G→A/IVS7–1G→A alternative splicing + – + + – telangiectasia Italy Forlino et al., 2002
9 8 611duplAGGCCCACCGTGA/611duplAGGCCCACCGTGA frameshift and premature stop codon + + + + + FTT Turkey Lupi et al., 2006
10 8/12 551G→A/833G→A Arg184Gln – – – – – asymptomatic at birth, no other data Canada Ledoux et al., 1996
11 8 551C→T/551C→T Arg184X + + + + – joint dislocations, partial deafness, visual disturbance Japan Kikuchi et al., 2000
12 8 605C→T/605C→T Ser202Phe – + + + + hepatomegaly, elevated IgE, brachydactyly, craniosynostosis Druze/Israel Hershkovitz et al., 2006
13b 8 605C→T/605C→T Ser202Phe – + – + + dermatitis Moslem/Israel Falik-Zaccai et al., 2010
14b 8 605C→T/605C→T Ser202Phe – + – + – Moslem/Israel Falik-Zaccai et al., 2010
15b 8 605C→T/605C→T Ser202Phe – + – + – Moslem/Israel Falik-Zaccai et al., 2010
16b 8 605C→T/605C→T Ser202Phe – + – + – Moslem/Israel Falik-Zaccai et al., 2010
17b 8 605C→T/605C→T Ser202Phe – + + + – FTT, died at age 20 months of respiratory failure Moslem/Israel Falik-Zaccai et al., 2010
18c 8 605C→T/605C→T Ser202Phe – + – + + dermatitis Moslem/Israel Falik-Zaccai et al., 2010
19c 8 605C→T/605C→T Ser202Phe – + – + + dermatitis Moslem/Israel Falik-Zaccai et al., 2010
20 8 605C→T/605C→T Ser202Phe – – + – + hypotonia Druze/Israel Falik-Zaccai et al., 2010
21 8 605C→T/605C→T Ser202Phe – + + + – dermatitis, asthma Druze/Israel Falik-Zaccai et al., 2010
22 8 605C→T/605C→T Ser202Phe – + – + + dermatitis, asthma Druze/Israel Falik-Zaccai et al., 2010
23 8 605C→T/605C→T Ser202Phe + + + + + SLE phenotype Druze/Israel Falik-Zaccai et al., 2010
24d 8 605C→T/605C→T Ser202Phe – + + + + dermatitis, asthma, bronchiectasis Druze/Israel Falik-Zaccai et al., 2010
25d 8 605C→T/605C→T Ser202Phe – + – + – asthma, dermatitis Druze/Israel Falik-Zaccai et al., 2010
26e 8 605C→T/605C→T Ser202Phe – + – + + dermatitis Druze/Israel Falik-Zaccai et al., 2010
27e 8 605C→T/605C→T Ser202Phe – + – + – FTT Druze/Israel Falik-Zaccai et al., 2010
28e 8 605C→T/605C→T Ser202Phe – + – + + cystic fibrosis, pseudo-psoriasis, FTT Druze/Israel Falik-Zaccai et al., 2010
29 8 605C→T/605C→T Ser202Phe – – – + – SLE Druze/Israel Butbul Aviel et al., 2012
30 8 605C→T/605C→T Ser202Phe – + + + + SLE, pancytopenia, lung disease, rash Druze/Israel Butbul Aviel et al., 2012
31 9 634G→C/634G→C Ala212Pro – + + + + SLE, FTT, microcephaly, clinodactyly, brachydactyly Moslem Arab Butbul Aviel et al., 2012
32 9 634G→C/634G→C Ala212Pro – + + + + FTT, dermatitis, SLE phenotype Moslem/Israel Falik-Zaccai et al., 2010
33 10 691delTAC/691delTAC 231delTyr + + + + – hypotonia, irritability Portugal Lupi et al., 2004; Pereira and Vilarinho, 1997
34 10 691delTAC/691delTAC 231delTyr + – + + – elevated IgE Portugal Lupi et al., 2004;
Lopes et al., 2002
35f 11 768C→G/768C→G Tyr256X + – – + + photosensitivity, elevated IgE, SLE phenotype Moslem Arab Klar et al., 2010
36f 11 768C→G/768C→G Tyr256X + – + + + telangiectasia, SLE phenotype Moslem Arab Klar et al., 2010
37f 11 768C→G/768C→G Tyr256X + – + – + fulminant hepatitis leading to infant death Moslem Arab Klar et al., 2010
38 11 IVS11 + 1G→C/null allele absent exon 11 + + – + – telangiectasia, photosensitivity Italy Forlino et al., 2002
39 11 IVS11 + 1G→A/ IVS11 + 1G→A alternative splicing – – + – – India Lupi et al., 2008
40g 11 793C→T/793C→T Arg265X + + + + – hepatomegaly, eczema-like rash, asplenia, FTT Amish/Ohio Wang et al., 2006
41g 11 793C→T/793C→T Arg265X + + + + + hepatomegaly, eczema-like rash, FTT Amish/Ohio Wang et al., 2006
42g 11 793C→T/793C→Τ Arg265X + – + + + hepatomegaly, eczema-like rash Amish/Ohio Wang et ah, 2006
43g 11 793C→T/793C→Τ Arg265X + – + + + hepatomegaly, eczema-like rash Amish/Ohio Wang et al., 2006
44 12 826G→A/826G→A Asp276Asn + – – – + Middle East Tanoue et al., 1990;
Lapière and Nusgens, 1969
45 12 826G→A/826G→A Asp276Asn + + + - - hypotonia, eczema-like rash, joint laxity, cortical and cerebellar atrophy on MRI brain Chinese Tanoue et al., 1990; Lombeck et al., 1986
46h 12 909_910insGCC Q303_K304insA + - - - - Kashmir Pandit et al., 2013
47h 12 909_910insGCC Q303_K304insA + – – – – Kashmir Pandit et al., 2013
48 12 874delT/874delT premature stop codon + – + – – osteopenia Turkey Besio et al., 2015
49 12 977G→A/977G→A Trp325* + + – + – genu valgum Spain Besio et al., 2015
50 12/14 977G→A/1342G→A Trp325*/Gly448Arg + + + + – short stature, genu valgum England Besio et al., 2015
51 12/14 826G→A/1342G→A Asp276Asn/Gly448Arg + + – – – perianal eczema Denmark Lupi et al., 2006
52 12/14 833G→A/1342G→A Gly278Asp/Gly448Arg + + + – + Denmark Lupi et al., 2006
53i 13 1103T→G/1103T→G Leu368Arg – + – + + FTT Druze/Israel Falik-Zaccai et al., 2010
54i 13 1103T→G/1103T→G Leu368Arg – + – + + FTT Druze/Israel Falik-Zaccai et al., 2010
55 13/14 1133delACG/1301delT Asp378del/frameshift and + + + + + short stature, microcephaly Italy Caselli et al., 2011
56j 14 1234G→A/1234G→A premature stop codon Glu412Lys + – – + – elevated IgE, hemoglobin O trait, eczema-like rash, dry skin Turkey Lupi et al., 2006; Aytug et al., 2006
57j 14 1234G→A/1234G→A Glu412Lys – – – – – slow skin healing after injury Turkey Lupi et al., 2006
58 14 1342G→A/null allele Gly448Arg + + + – – Canada Ledoux et al., 1994
59 14 1342G→A/1342G→A Gly448Arg + + + + + UK Ledoux et al., 1994
60k 14 1342G→A/1342G→A Gly448Arg + + + + – Italy Forlino et al., 2002
61k 14 1342G→A/1342G→A Gly448Arg + – – – – Italy Forlino et al., 2002
62 14 1342G→A/1342G→A Gly448Arg + + – – + SLE Italy Lupi et al., 2006
63l 14/15 1342G→A/1354G→A Gly448Arg/Glu451 Lys + + + + – osteopenia Poland Besio et al., 2015
64l 14/15 1342G→A/1354G→A Gly448Arg/Glu451 Lys + – + + – osteopenia Poland Besio et al., 2015
65m 14 del774bp absent exon 14 + + – – – telangiectasia, premature gray hairs at age 13 years Japan Tanoue et al., 1991; Arata et al., 1979
66m 14 del774bp absent exon 14 + – – – – Japan Tanoue et al., 1991;
Arata et al., 1979
67 15 1354delGAG/null allele 452delGlu + + chronic liver disease Australia Ledoux et al., 1994
68 124.79–195.72-kb deletion – – – + – microcephaly, lipodystrophy, xerosis Mexican/USA Current paper

Table adapted from Lupi et al. [2008] with additional information on mutations and phenotypes. Patients are unrelated unless otherwise indicated. DD = Developmental delay; FD = facial dysmorphism; FI = frequent infections; FTT = failure to thrive; ID = intellectual disability; SM = splenomegaly.

a, d, f, l

Siblings;

b, e, g

family related;

h, j, m

sisters;

j

cousins;

k

brothers.