Table 1 The clinical features of the twenty subjects in this study
Case no | Gendera | Ageb (years) | Subtype | Age at LTc (years) | Zygosityd | Mutation type |
|---|---|---|---|---|---|---|
1 | F | 8 | B12-R | – | H | MMAB: c.523G > A,p.Gly175Ter |
2 | M | 0.33 | B12-R | – | H | MMAB: c.523G > A,p.Gly175Ter |
3 | M | 10 | B12-R | – | CH | MMACHC:c.609G > A,p.Trp203Ter MMACHC:c.658_660delAAG,p.Lys220del |
4 | M | 7 | B12-R | – | CH | MMACHC:c.228_231delTGAC,p.Asp77Glnfs*22 MMACHC: c.394C > T,p.Arg132Ter |
5 | F | 3 | B12-R | – | CH | MMACHC:c.609G > A,p.Trp203Ter MMACHC:c.626dupT,p.Thr210Aspfs*35 |
6 | M | 1 | B12-R | – | CH | MMACHC:c.482G > A, p.Arg161Gln MMACHC:c.398_399del,p.Gln133Argfs*4 |
7 | F | 20 | B12-NR | – | CH | MMUT:c.919 T > C,p.Phe307Leu MMUT:c.1280G > A,p.Gly427Asp |
8 | F | 17 | B12-NR | 6.75 | H | MMUT:c.1280G > A,p.Gly427Asp |
9 | M | 14 | B12-NR | 0.67 | H | MMUT:c.982C > T,p.Leu328Phe |
10 | F | 11 | B12-NR | 0.67 | CH | MMUT:c.454C > T,p.Arg152Ter MMUT:c.1677-1G > A |
11 | F | 9 | B12-NR | 1 | CH | MMUT:c.1159 A > C,p.Thr387Ile MMUT:c.1630_1631 GG > TA,p.Gly544Ter |
12 | M | 9 | B12-NR | 0.92 | CH | MMUT:c.729_730insTT,p.Asp244Leufs*39 MMUT:c.982C > T,p.Leu328Phe |
13 | F | 8 | B12-NR | 1.17 | H | MMUT:c.1280G > A,p.Gly427Asp |
14 | M | 6 | B12-NR | – | CH | MMUT:c.1105C > T,p.Arg369Cys MMUT:c.1280G > A,p.Gly427Asp |
15 | F | 4 | B12-NR | – | CH | MMUT:c.1280G > A,p.Gly427Asp MMUT:c.323G > A, p.Arg108His |
16 | M | 2 | B12-NR | 0.5 | CH | MMUT:c.1280G > A,p.Gly427Asp MMUT:c.1782_1786delTAAAG,p.Ser594Argfs*11 |
17 | F | 2 | B12-NR | 0.5 | CH | MMUT:c.1280G > A,p.Gly427Asp MMUT:c.1782_1786delTAAAG,p.Ser594Argfs*11 |
18 | F | 2 | B12-NR | – | CH | MMUT:c.1192A > C,p.Thr398Pro MMUT:c.454C > T,p.Arg152Ter |
19 | M | 2 | B12-NR | – | CH | MMUT:c.1655C > T,p.Ala552Val MMUT:c.1655C > T,p.Ala552Val |
20 | F | 0.33 | B12-NR | – | CH | MMUT: c.1106G > A,p.Arg369His MMUT:c.1677-1G > A |