Table 1 Summary of clinical, biochemical, and molecular features
Family | F1 | F2 | F3 | F4 | F5 | F6 | F7 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Individuals | F1-II-2 | F1-II-3 | F2-II-1 | F2-II-3 | F3-II-1 | F3-II-3 | F4-II-1 | F4-II-2 | F5-II-2 | F6-II-2 | F7-II-1 | |
Current age | 7 years | 3 years | 19 years | 10 years | 12 years | 10 years | 2 years | 6 months | 14 years | 4 years | 11 years | |
Gender | F | F | M | F | F | M | M | M | M | M | F | |
DD HP:0012758 | + | + | + | + | - / + | + | + | + | + | + | + | |
ID degree HP:0001249 | S | S | Mo | Mo | Mi | S | S | S | S | Mo | S | |
Epilepsy HP:0001250 | + | + | - | - | - | + | + | + | + | - | + | |
Brain MRI anomalies | + | + | - | ND | - | + | - | ND | + | - | + | |
Alopecia HP:0001596 | + | + | + | + | + | + | + | + | + | + | + | |
Total cholesterola | Norm. | Norm. | ND | ND | Low. | Norm. | ND | ND | Norm. | Norm. | ND | |
Chol. precursors | Norm. | Norm. | ND | ND | ND | ND | ND | ND | ND | Norm. | ND | |
Variants status | Het. | Het. | Het. | Het. | Hom. | Hom. | Het. | Het. | Het. | Het. | Hom. | |
LSS paternal variant | c.1547A>G p.(Asn516Ser) | c.779G>C p.(Arg260Pro) | c.1109+2T>C splice p.? | c.857A>G p.(Tyr286Cys) | c.1417dup p.(His473Profs*32) | Unidentified but allelic imbalance | c.35G>A p.(Gly12Asp) | |||||
gnomAD frequency | 8.157e-6 (245192/2/0) | 8.133e-6 (245916/2/0) | Not found | Not found | 3.718e-5 (242038/9/0) | - | Not found | |||||
CADD (score) V1.3 | 23.6 | 34 | 24.2 | 24.5 | 29.2 | - | 29.7 | |||||
PolyPhen-2 (score) | HumDiv | 0.997 | 1.000 | - | 1.000 | - | - | 1.000 | ||||
HumVar | 0.620 | 0.965 | - | 0.999 | - | - | 0.963 | |||||
LSS maternal variant | c.2114C>A p.(Thr705Lys) | c.1194+5G>A splice p.? | c.1109+2T>C splice p.? | c.1810C>T p.(Arg604*) | c.41A>G p.(Tyr14Cys) | c.1955C>T p.(Thr652Ile) | c.35G>A p.(Gly12Asp) | |||||
gnomAD frequency | not found | 2.894e-5 (276428/8/0) | Not found | 1.445e-5 (276908/4/0) | Not found | Not found | Not found | |||||
CADD (score) V1.3 | 24.7 | 10.58 | 24.2 | 34 | 22.5 | 27.3 | 29.7 | |||||
PolyPhen-2 (core) | HumDiv | 0.998 | - | - | - | 0.999 | 1.000 | 1.000 | ||||
HumVar | 0.745 | - | - | - | 0.869 | 1.000 | 0.963 | |||||
