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Table 2 Summary of POMT1 mutations identified in patients of this study

From: Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

Patient Diagnosis Exon/Intron Nucleotide change Predicted amino acid change Mutation type Reference
1 LGMD Exon 7 c.598G > C Ala200Pro Missense [8]
Exon 7 c.598G > C Ala200Pro Missense [8]
2 LGMD Exon 7 c.598G > C Ala200Pro Missense [8]
Exon 7 c.598G > C Ala200Pro Missense [8]
3 LGMD Exon 7 c.598G > C Ala200Pro Missense [8]
Exon 7 c.598G > C Ala200Pro Missense [8]
4 LGMD Exon 7 c.598G > C Ala200Pro Missense [8]
Exon 7 c.598G > C Ala200Pro Missense [8]
5 LGMD Exon 7 c.598G > C Ala200Pro Missense [8]
Exon 7 c.598G > C Ala200Pro Missense [8]
6 LGMD Exon 15 c.1456dupT Trp486Leufs*74 Frame shift this study
Exon 3 c.160 T > A Tyr54Asn Missense this study
7 LGMD Exon 18,19 partial deletion Exon 18–19 A589Vfs*38 Frame shift [14]
Exon 6 c.512 T > G Leu171Arg Missense [14]
8 a, b LGMD Exon7 c.598G > C Ala200Pro Missense [8]
Exon7 c.598G > C Ala200Pro Missense [8]
9 LGMD Exon 19 c.1987C > T Leu663Phe Missense this study
Exon 20 c.2167dupG Asp723Glyfs*8 Frame shift [4, 7, 10]
10 LGMD Exon 19 c.1958C > T Pro653Leu Missense [10]
Exon 15 c.1456dupT Trp486Leufs*74 Frame shift this study
11 LGMD Exon 7 c.598G > C Ala200Pro Missense [8]
Exon 7 c.598G > C Ala200Pro Missense [8]
12 LGMD Exon 7 c.598G > C Ala200Pro Missense [8]
Exon 7 c.598G > C Ala200Pro Missense [8]
13a, b LGMD Exon 7 c.598G > C Ala200Pro Missense [8]
Exon 7 c.598G > C Ala200Pro Missense [8]
14 LGMD Exon 7 c.598G > C Ala200Pro Missense [8]
Exon 7 c.598G > C Ala200Pro Missense [8]
15 LGMD Exon 7 c.598G > C Ala200Pro Missense [8]
Exon 7 c.598G > C Ala200Pro Missense [8]
16 LGMD Exon 7 c.598G > C Ala200Pro Missense [8]
Exon 7 c.598G > C Ala200Pro Missense [8]
17 LGMD Exon 7 c.598G > C Ala200Pro Missense [8]
Exon 7 c.598G > C Ala200Pro Missense [8]
18 WWS Intron 4 c.280 + 1G > T p.del77_93 (delExon4) Donor splice site [15, 31]
Intron 4 c.280 + 1G > T p.del77_93 (delExon4) Donor splice site [15, 31]
19 WWS Exon 15 c.1540C > T Arg514* Nonsense [11]
Exon 15 c.1540C > T Arg514* Nonsense [11]
20 WWS Exon 18 c.1558C > T Arg620* Nonsense [33]
Exon 18 c.1558C > T Arg620* Nonsense [33]
21 a, b, c WWS Exon 20 c.2167dupG p.Asp723Glyfs*8 Frame shift [4, 7, 10]
Exon 12 c.1153C > T Gln385* Nonsense [4]
22 a, b, c WWS Exon 9 c.842_844delTCT del281Phe In frame this study
Exon 20 c.2167dupG p.Asp723Glyfs*8 Frame shift [4, 7, 10]
23 a, b, c WWS Exon 11 c.1153C > T Gln385* Nonsense [4]
Exon 20 c.2167dupG p.Asp723Glyfs*8 Frame shift [4, 7, 10]
24 WWS Exon 20 c.2167dupG p.Asp723Glyfs*8 Frame shift [4, 7, 10]
Exon 20 c.2167dupG p.Asp723Glyfs*8 Frame shift [4, 7, 10]
25 WWS Exon 9 c.907C > T p.Gln303* Nonsense [4]
Exon 9 c.907C > T p.Gln303* Nonsense [4]
26 MEB-like Exon 15 c.1528G > A p.Val510Met Missense this study
Exon 17 c.1688A > C p.His563Pro Missense this study
27 WWS Exon 5 c.299delC p.Pro100Leufs*23 Frame shift this study
Intron 8 c.766-2A > G p.? Acceptor splice site this study