Table 2 Phenotype and genotype of individuals with HS reported
From: Expanding the clinical and genetic spectrum of Heimler syndrome
Gene | Patients ID | Origin | Sex | Age | Variants | Ocular features | SNHL | Nail | Tooth | Others | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|
PEX1 | 1F1–1 | USA | M | 31 | c.2114 T > G c.2097dup | RP, MD. | + | Beau’s lines, leukonychia | Amelogenesis imperfecta | N | [1] |
2F1–2 | USA | F | 29 | c.2114 T > G c.2097dup | RP, MD. | + | Beau’s lines, leukonychia | Amelogenesis imperfecta | N | [1] | |
9F6–1 | Morocco | F | 16 | c.3750G > A c.3750G > A | N | + | N | Amelogenesis imperfecta | N | [9] | |
10F6–2 | Morocco | M | 12 | c.3750G > A c.3750G > A | N | + | N | Amelogenesis imperfecta | N | [9] | |
11F7–1 | Ireland | F | 19 | c.1742G > C c.1239 + 1G > T | NA | + | N | Amelogenesis imperfecta | N | [9] | |
12F8–1 | UK | F | 24 | c.1742G > C c.2097dup | RP | + | N | Amelogenesis imperfecta | N | [9] | |
18F11–1 | Moroccan | F | 13 | c.3140 T > C c.3140 T > C | RP, CME. | + | N | Amelogenesis imperfecta | N | [3] | |
27F17–1 | China | M | 45 | c.1792delA c.2966 T > C | Retinal dystrophy | + | Beau’s lines | Amelogenesis imperfecta | Mild learning disability, paranoid schizophrenia, dry split skin on hands; ichthyosis over limbs | [2] | |
30F20–1 | China | M | 9 | c.2966 T > C c.2097_2098insT | RP, CME. | + | N | Amelogenesis imperfecta | Hyperactivity, abnormal EEG,θincreases slightly in wake background | This study | |
31F21–1 | China | F | 8 | c.2966 T > C c.895_896insTATA | RP, CME. | + | N | Amelogenesis imperfecta | Hyperactivity | This study | |
PEX6 | 6F4–1 | UK | F | 21 | c.1802G > A c.1841delT | RP | + | Beau’s lines, leukonychia | Amelogenesis imperfecta | N | [12] |
7F4–2 | UK | F | 21 | c.1802G > A c.1841delT | RP | + | Beau’s lines, leukonychia | Amelogenesis imperfecta | N | [12] | |
19F12–1 | USA | M | NA | c.654C > G c.1802G > A | Retinal dystrophy | NA | NA | Amelogenesis imperfecta | NA | [2] | |
20F12–2 | USA | F | NA | c.654C > G c.1802G > A | Retinal dystrophy | NA | NA | Amelogenesis imperfecta | NA | [2] | |
21F12–3 | USA | M | NA | c.654C > G c.1802G > A | Retinal dystrophy | NA | NA | Amelogenesis imperfecta | NA | [2] | |
22F13–1 | USA | M | 12 | c.275 T > G c.1802G > A | Retinal dystrophy | + | Beau’s lines | Amelogenesis imperfecta | Hyperpigmentation on left arm and shoulder | [2] | |
23F14–1 | USA | F | 7 | c.296G > T c.1802G > A | Retinal dystrophy | + | N | Amelogenesis imperfecta | N | [2] | |
24F15–1 | UK | F | 11 | c.1314_1321delGGAGGCCT c.2714G > T | Retinal dystrophy | + | NA | Amelogenesis imperfecta | NA | [2] | |
25F16–1 | Israel | F | 35 | c.1715C > T c.1715C > T | Retinal dystrophy | + | N | Amelogenesis imperfecta | Mild learning disability, Light facial lesions | [2] | |
26F16–2 | Israel | F | 22 | c.1715C > T c.1715C > T | Retinal dystrophy | + | N | Amelogenesis imperfecta | Mild learning disability, light facial lesions | [2] | |
13F9–1 | UK | F | 21 | c.1930C > T c.821C > T | RP | + | Beau’s lines, onychoschizia | Amelogenesis imperfecta | N | [9] | |
14F9–2 | UK | F | 16 | c.1930C > T c.821C > T | RP | + | Beau’s lines, onychoschizia | Amelogenesis imperfecta | N | [9] | |
PEX26 | 28F18–1 | Germany | F | 4 | c.3G > A c.292C > T | RP | + | NA | Amelogenesis imperfecta | NA | [4] |
29F19–1 | Germany | M | 14 | c.127G > C c.292C > T | RP | + | NA | Amelogenesis imperfecta | NA | [4] | |
– | 15F10–1 | UK | F | 21 | – | N | + | N | Amelogenesis imperfecta | N | [9] |
16F10–2 | UK | M | 20 | – | N | + | N | Amelogenesis imperfecta | N | [9] | |
17F10–3 | UK | M | 16 | – | N | + | N | Amelogenesis imperfecta | N | [9] | |
3F2–1 | UK | F | 12 | – | NA | + | Beau’s lines, | Amelogenesis imperfecta | N | [14] | |
NA | 4F3–1 | German and Irish ancestry | F | 15 | NA | NA | + | Beau’s lines, | Amelogenesis imperfecta | N | [13] |
5F3–2 | German and Irish ancestry | F | 8 | NA | NA | + | Beau’s lines, | Amelogenesis imperfecta | N | [13] | |
8F5–1 | USA | F | 29 | NA | RP, CME. | + | Beau’s lines, leukonychia | Amelogenesis imperfecta | N | [11] |