Table 1 Summary of MPLZ2 variants and related phenotypes
No | Family No. (patient No.) | Nationality | Allele 1 | Amino acid change | Allele 2 | Amino acid change | Age of onset (years old) | First time consultancy | Hearing follow-up | Phenotype | Pathogenicity@ (ACMG criteria) | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Age (years old) | PTA (dB HL) | Age (years old) | PTA (dB HL) | progression | symmetrical | |||||||||
1Δ | Dutch [8] | c.72delA | (p.Ile24Metfs*22) | c.72delA | (p.Ile24Metfs*22) | 4 | 16 | 50.00 | 37 | 61.25 | yes | yes | Pathogenic | |
2 | Dutch [8] | c.72delA | (p.Ile24Metfs*22) | c.72delA | (p.Ile24Metfs*22) | 9 | 22 | 47.50 | 42 | 68.75 | yes | yes | ||
3 | Dutch [8] | c.72delA | (p.Ile24Metfs*22) | c.72delA | (p.Ile24Metfs*22) | 4 | 4 | 40.00 | 9 | 40.00 | no | yes | ||
4Δ | Turkey [8] | c.72delA | (p.Ile24Metfs*22) | c.72delA | (p.Ile24Metfs*22) | 3 | 5 | 37.50 | 8 | 42.50 | no | yes | ||
5Δ | Turkey [8] | c.72delA | (p.Ile24Metfs*22) | c.220C > T | (p.Gln74*) | childhood | 34 | 42.50 | 44 | 50.00 | yes | yes | Pathogenic/ Pathogenic | |
6 | Turkey [8] | c.72delA | (p.Ile24Metfs*22) | c.220C > T | (p.Gln74*) | 3 | 6 | 37.50 | 13 | 36.25 | no | yes | Pathogenic/ Pathogenic | |
7 | Turkey [8] | c.72delA | (p.Ile24Metfs*22) | c.72delA | (p.Ile24Metfs*22) | 5 | 5 | 26.25 | 16 | 42.50 | yes | yes | Pathogenic | |
8 | Turkey [8] | c.72delA | (p.Ile24Metfs*22) | c.220C > T | (p.Gln74*) | 6 | 6 | 40.00 | 7 | 37.50 | no | yes | Pathogenic/ Pathogenic | |
9Δ | Turkey [14] | c.72delA | (p.Ile24Metfs*22) | c.72delA | (p.Ile24Metfs*22) | Congenital or prelingual | / | / | 21 | R 46.25 L 48.75 | no | yes | Pathogenic | |
10 | Turkey [14] | c.72delA | (p.Ile24Metfs*22) | c.72delA | (p.Ile24Metfs*22) | 14 | R 55.00 L 50.00 | no | yes | |||||
11 | Turkey [14] | c.72delA | (p.Ile24Metfs*22) | c.72delA | (p.Ile24Metfs*22) | 8 | R 48.75 L 51.25 | no | yes | |||||
12Δ | Turkey [14] | c.72delA | (p.Ile24Metfs*22) | c.72delA | (p.Ile24Metfs*22) | 4 | R 53.75 L 50.00 | no | yes | |||||
13Δ | Iran [14] | c.72delA | (p.Ile24Metfs*22) | c.72delA | (p.Ile24Metfs*22) | Congenital or prelingual | / | / | 13 | R 42.50 L 40.00 | no | yes | Pathogenic | |
14 | Iran [14] | c.72delA | (p.Ile24Metfs*22) | c.72delA | (p.Ile24Metfs*22) | 8 | R 35.00 L 35.00 | no | yes | |||||
15 | Iran [14] | c.72delA | (p.Ile24Metfs*22) | c.72delA | (p.Ile24Metfs*22) | 36 | R 66.25 L 66.25 | no | yes | |||||
16 | Iran [14] | c.72delA | (p.Ile24Metfs*22) | c.72delA | (p.Ile24Metfs*22) | 5 | R 70.00 L 97.50 | no | no | |||||
17Δ | Korean [4] | c.220C > T | (p.Gln74*) | c.463delG | (p.Ala155Leufs*10) | < 15 | / | / | 12.40 ± 4.20# | 43.80 ± 8.10# | / | yes | Pathogenic/ Pathogenic | |
18Δ | Korean [4] | c.220C > T | (p.Gln74*) | c.220C > T | (p.Gln74*) | / | yes | Pathogenic | ||||||
19Δ | Korean [4] | c.220C > T | (p.Gln74*) | c.220C > T | (p.Gln74*) | / | yes | |||||||
20Δ | Korean [4] | c.220C > T | (p.Gln74*) | c.220C > T | (p.Gln74*) | / | yes | |||||||
21Δ | Korean [4] | c.220C > T | (p.Gln74*) | c.220C > T | (p.Gln74*) | / | yes | |||||||
22Δ | Korean [4] | c.220C > T | (p.Gln74*) | c.220C > T | (p.Gln74*) | / | yes | |||||||
23Δ | Korean [4] | c.220C > T | (p.Gln74*) | c.220C > T | (p.Gln74*) | / | yes | |||||||
24Δ | Korean [4] | c.220C > T | (p.Gln74*) | c.220C > T | (p.Gln74*) | / | yes | |||||||
25Δ | Korean [4] | c.220C > T | (p.Gln74*) | c.220C > T | (p.Gln74*) | / | yes | |||||||
26Δ | Moroccan [15] | c.72delA | (p.Ile24Metfs*22) | c.72delA | (p.Ile24Metfs*22) | prelingual | / | / | childhood | R 49.17 L 33.75 | / | yes | Pathogenic | |
27 | Moroccan [15] | c.72delA | (p.Ile24Metfs*22) | c.72delA | (p.Ile24Metfs*22) | R 45.83 L 40.00 | / | yes | ||||||
28Δ | Chinese [17] | c.220C > T | (p.Gln74*) | c.68delC | (p.Pro23Leufs*2) | 13(R) | 15 | R 57.50 L 28.75 | 28 | R 68.75 L 63.75 | yes | no | Pathogenic/ Pathogenic | |
29Δ | Chinese [17] | c.220C > T | (p.Gln74*) | c.220C > T | (p.Gln74*) | congenital | 0.25 | R 25.00 L 35.00 | 1.25 | R 40.00 L 45.00 | yes | yes | Pathogenic | |
30Δ | Family 1 (II-1) | Chinese (this study) | c.220C > T | (p.Gln74*) | c.220C > T | (p.Gln74*) | 15 | 15 | R 42.25 L 43.25 | 32 | R 60.00 L 61.25 | yes | yes | Pathogenic |
31 | Family 1 (II-3) | Chinese (this study) | c.220C > T | (p.Gln74*) | c.220C > T | (p.Gln74*) | 18 | 18 | R 43.75 L 45.50 | NA | NA NA | no | yes | Pathogenic |
32Δ | Family 2 (II-1) | Chinese (this study) | c.220C > T | (p.Gln74*) | c.463delG | (p.Ala155Leufs*10) | 19 | 19 | R 47.75 L 50.00 | 20 | R 48.75 L 50.00 | no | yes | Pathogenic/ Pathogenic |
33 | Family 2 (II-2) | Chinese (this study) | c.220C > T | (p.Gln74*) | c.463delG | (p.Ala155Leufs*10) | 12 | 12 | R 43.75 L 48.75 | NA | NA NA | no | yes | Pathogenic |
34Δ | Family 3 (II-1) | Chinese (this study) | c.220C > T | (p.Gln74*) | c.3G > T | (p.Met1?) | childhood | NA | NA | 38 | R 57.50 L 56.25 | yes | yes | Pathogenic/ Likely Pathogenic |
35Δ | Family 4 (II-1) | Chinese (this study) | c.220C > T | (p.Gln74*) | c.68delC | (p.Pro23Leufs*2) | 20 | 28 | NA | 35 | R 65.00 L 63.75 | yes | yes | Pathogenic/ Pathogenic |
36Δ | Family 5 (II-1) | Chinese (this study) | c.220C > T | (p.Gln74*) | c.220C > T | (p.Gln74*) | 21 | 21 | NA | 23 | R 65.00 L 48.75 | no | yes | Pathogenic |
37Δ | Family 6 (II-1) | Chinese (this study) | c.220C > T | (p.Gln74*) | c.220C > T | (p.Gln74*) | 7.5 | 13 | R 43.75 L 38.75 | 16 | R 61.25 L 61.25 | yes | yes | Pathogenic |
38Δ | Family 7 (II-1) | Chinese (this study) | c.220C > T | (p.Gln74*) | c.220C > T | (p.Gln74*) | 10 | 10 | R 42.50 L 43.75 | 14 | R 42.50 L 45.00 | no | yes | Pathogenic |
39Δ | Family 8 (II-1) | Chinese (this study) | c.220C > T | (p.Gln74*) | c.220C > T | (p.Gln74*) | 5 | 10 | NA | 10 | R 42.50 L 41.25 | no | yes | Pathogenic |