Table 2.

SH2D1A mutations in families with definitive diagnosis of XLP

No.FamilyAffected males in familyClinical phenotypes of affected malesDetectionType of mutationNucleotides affectedPredicted effect
1 K043 2 Dys, g S, PCR Deletion 3.5 Mb DNA deleted at Xq25 Neither SH2D1A nor tenascin-m proteins 
2 K063 4 FIM, LPD S, PCR Deletion 3.5 Mb DNA deleted at Xq25 Neither SH2D1A nor tenascin-m proteins 
3 K073 4 FIM, LPD S, PCR Deletion 3.5 Mb DNA deleted at Xq25 Neither SH2D1A nor tenascin-m proteins 
4 Ado1 3 FIM S, PCR Deletion Exons 1-4 No SH2D1A Protein  
5 K051 3 Dys-g S, PCR Deletion Exons 1-4 No SH2D1A Protein 
6 K005 5 FIM, LPD S, PCR Deletion Exons 2-4 Truncated SH2D1A protein  
7 K083 2 FIM S, PCR Deletion Exons 2-4 Truncated SH2D1A protein 
8 K001 11 FIM, LPD dys-g S, PCR Deletion Exon 2 Truncated SH2D1A protein 
9 K032 3 FIM, dys-g PCR.2 Deletion Exon 2 Truncated SH2D1A protein  
10 K055 5 FIM, AA LPD, dys-g SPCR.2 Deletion 89 bp of intron 1 + exon 2 + intron 2 Truncated SH2D1A protein  
11 K060 4 LPD, dys-g PCR.2 Deletion 159 bp of exon 2 from nucleotide 448 + intron 2 Truncated SH2D1A protein 
12 K061 3 FIM, LPD PCR.2 Deletion 439A-485T Frameshift, truncated SH2D1A protein  
13 K008 7 FIM, LPD PCR.2 Splice ACAGgtACCGgt intron 1 3′ splice site Exon 2 skipping  
14 K048 2 LPD PCR.1 Splice ctGTGA > ctGCGA intron 1 5′ splice site Intron retention truncated SH2D1A protein  
15 K065 7 FIM, dys-g PCR.2 Splice agGTAT > agATAT intron 2 5′ splice site Intron retention truncated SH2D1A protein 
16 K003 16 LPD PCR.2 Nonsense 462C → T Arg55stop truncated SH2D1A protein 
17 K004 6 Dys-g PCR.2 Nonsense 462C → T Arg55stop truncated SH2D1A protein  
18 K019 2 FIM, LPD PCR.2 Nonsense 462C → T Arg55stop truncated SH2D1A protein 
19 K030 2 LPD PCR.2 Nonsense 462C → T Arg55stop truncated SH2D1A protein  
20 K069 2 FIM, LPD PCR.2 Nonsense 462C → T Arg55stop truncated SH2D1A protein  
21 K081 3 FIM, LPD PCR.2 Nonsense 462C → T Arg55stop 
22 K006 8 FIM, LPD PCR.2 Nonsense 462C → T Gln58stop truncated SH2D1A protein 
23 K054 3 LPD PCR.2 Nonsense 490G → A Trp64stop, truncated SH2D1A protein 
24 K062 2 FIM PCR.3 Missense 604T → G Val102Gly 
25 K046 3 FIM, AA PCR.1 Missense 319A → G Tyr7Cys 
26 K068 6 LPD, dys-g PCR.1 Missense 383C → G Ser28Arg 
27 K037 5 FIM, dys-g PCR.1 Missense 425C → G Cys42Trp 
28 K053 14 FIM, LPD, dys-g PCR.2 Missense 457C → G Thr53Ile 
29 K082 3 FIM, dys-g PCR.3 Missense 559T → C Phe87Ser 
30 K002 17 FIM, LPS, dys-g PCR.3 Missense 595A → C Gln99Pro 
31 K084 6 FIM PCR.2 Nonsense 490G → A Trp64stop truncated SH2D1A protein  
32 K042 2 FIM dys-g  ? No mutation found in the SHD1A gene N/A  
33 K080 2 FIM, dys-g PCR.2 Intron 7-bp deletion in the first intron Truncated SH2D1A transcript 
34 K089 3 ML PCR.1 Missense 391T → C Leu31Pro 
35 K038 2 LPD, FIM PCR.2 Missense 460A → G Tyr54Cys 
No.FamilyAffected males in familyClinical phenotypes of affected malesDetectionType of mutationNucleotides affectedPredicted effect
1 K043 2 Dys, g S, PCR Deletion 3.5 Mb DNA deleted at Xq25 Neither SH2D1A nor tenascin-m proteins 
2 K063 4 FIM, LPD S, PCR Deletion 3.5 Mb DNA deleted at Xq25 Neither SH2D1A nor tenascin-m proteins 
3 K073 4 FIM, LPD S, PCR Deletion 3.5 Mb DNA deleted at Xq25 Neither SH2D1A nor tenascin-m proteins 
4 Ado1 3 FIM S, PCR Deletion Exons 1-4 No SH2D1A Protein  
5 K051 3 Dys-g S, PCR Deletion Exons 1-4 No SH2D1A Protein 
6 K005 5 FIM, LPD S, PCR Deletion Exons 2-4 Truncated SH2D1A protein  
7 K083 2 FIM S, PCR Deletion Exons 2-4 Truncated SH2D1A protein 
8 K001 11 FIM, LPD dys-g S, PCR Deletion Exon 2 Truncated SH2D1A protein 
9 K032 3 FIM, dys-g PCR.2 Deletion Exon 2 Truncated SH2D1A protein  
10 K055 5 FIM, AA LPD, dys-g SPCR.2 Deletion 89 bp of intron 1 + exon 2 + intron 2 Truncated SH2D1A protein  
11 K060 4 LPD, dys-g PCR.2 Deletion 159 bp of exon 2 from nucleotide 448 + intron 2 Truncated SH2D1A protein 
12 K061 3 FIM, LPD PCR.2 Deletion 439A-485T Frameshift, truncated SH2D1A protein  
13 K008 7 FIM, LPD PCR.2 Splice ACAGgtACCGgt intron 1 3′ splice site Exon 2 skipping  
14 K048 2 LPD PCR.1 Splice ctGTGA > ctGCGA intron 1 5′ splice site Intron retention truncated SH2D1A protein  
15 K065 7 FIM, dys-g PCR.2 Splice agGTAT > agATAT intron 2 5′ splice site Intron retention truncated SH2D1A protein 
16 K003 16 LPD PCR.2 Nonsense 462C → T Arg55stop truncated SH2D1A protein 
17 K004 6 Dys-g PCR.2 Nonsense 462C → T Arg55stop truncated SH2D1A protein  
18 K019 2 FIM, LPD PCR.2 Nonsense 462C → T Arg55stop truncated SH2D1A protein 
19 K030 2 LPD PCR.2 Nonsense 462C → T Arg55stop truncated SH2D1A protein  
20 K069 2 FIM, LPD PCR.2 Nonsense 462C → T Arg55stop truncated SH2D1A protein  
21 K081 3 FIM, LPD PCR.2 Nonsense 462C → T Arg55stop 
22 K006 8 FIM, LPD PCR.2 Nonsense 462C → T Gln58stop truncated SH2D1A protein 
23 K054 3 LPD PCR.2 Nonsense 490G → A Trp64stop, truncated SH2D1A protein 
24 K062 2 FIM PCR.3 Missense 604T → G Val102Gly 
25 K046 3 FIM, AA PCR.1 Missense 319A → G Tyr7Cys 
26 K068 6 LPD, dys-g PCR.1 Missense 383C → G Ser28Arg 
27 K037 5 FIM, dys-g PCR.1 Missense 425C → G Cys42Trp 
28 K053 14 FIM, LPD, dys-g PCR.2 Missense 457C → G Thr53Ile 
29 K082 3 FIM, dys-g PCR.3 Missense 559T → C Phe87Ser 
30 K002 17 FIM, LPS, dys-g PCR.3 Missense 595A → C Gln99Pro 
31 K084 6 FIM PCR.2 Nonsense 490G → A Trp64stop truncated SH2D1A protein  
32 K042 2 FIM dys-g  ? No mutation found in the SHD1A gene N/A  
33 K080 2 FIM, dys-g PCR.2 Intron 7-bp deletion in the first intron Truncated SH2D1A transcript 
34 K089 3 ML PCR.1 Missense 391T → C Leu31Pro 
35 K038 2 LPD, FIM PCR.2 Missense 460A → G Tyr54Cys 
View Large
Close Modal
This Feature Is Available To Subscribers Only

or Create an Account

Close Modal
Close Modal