Table 1.
Clinical and molecular findings in Spanish LAL deficiency patients
| Family | DNA | Age at diagnosis | LAL form | Genotype (cDNA) | Genotype (protein) | Cons. | AD | D/MD | H | PD | HM | SM | SGS | V | D | HCH | LC | HT | HTR |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F1 | W1 | 15 days | Wolman | [c.966+2T>G]; [c.966+2T>G] | [IVS9+2T>G]; [IVS9+2T>G] | Yes | – | – | Yes | Yes | Yes | Yes | – | Yes | Yes | – | – | – | – |
| F2 | W2 | 1 month | Wolman | [c.966+2T>G]; [c.966+2T>G] | [IVS9+2T>G]; [IVS9+2T>G] | Yes | – | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | – | – | – | – |
| F3 | W5 | ND | Wolman | [c.966+2T>G]; [c.966+2T>G] | [IVS9+2T>G]; [IVS9+2T>G] | – | – | – | – | – | – | – | – | – | – | – | – | – | – |
| F4 | W6 | 15 days | Wolman | [c.966+2T>G]; [c.966+2T>G] | [IVS9+2T>G]; [IVS9+2T>G] | – | Yes | – | – | – | Yes | Yes | Yes | – | Yes | – | – | Yes | – |
| F5 | W13 | 2 months | Wolman | [c.966+2T>G]; [c.966+2T>G] | [IVS9+2T>G]; [IVS9+2T>G] | – | – | – | – | – | Yes | Yes | Yes | – | – | – | – | – | – |
| F6 | W15 | 41 days | Wolman | [c.966+2T>G]; [c.966+2T>G] | [IVS9+2T>G]; [IVS9+2T>G] | Yes | – | – | – | Yes | – | – | Yes | Yes | Yes | – | – | – | – |
| F7 | W16 | 2 months | Wolman | [c.966+2T>G]; [c.966+2T>G] | [IVS9+2T>G]; [IVS9+2T>G] | Yes | – | Yes | Yes | Yes | Yes | – | Yes | – | Yes | – | – | – | – |
| F8 | W18 | 15 days | Wolman | [c.966+2T>G]; [c.966+2T>G] | [IVS9+2T>G]; [IVS9+2T>G] | Yes | Yes | – | – | Yes | Yes | Yes | Yes | Yes | – | – | – | – | – |
| W23 | 4 months | Wolman | [c.966+2T>G]; [c.966+2T>G] | [IVS9+2T>G]; [IVS9+2T>G] | – | – | – | – | – | – | – | – | – | – | – | – | – | – | |
| F9 | W22 | 25 days | Wolman | [c.966+2T>G]; [c.966+2T>G] | [IVS9+2T>G]; [IVS9+2T>G] | – | – | – | – | – | – | – | – | – | – | – | – | – | – |
| F10 | W7 | 45 days | Wolman | [c.894G>C]; [c.894G>C] | [p. Q298H]; [p. Q298H] | – | Yes | – | – | Yes | Yes | Yes | – | Yes | Yes | – | – | – | – |
| F11 | W10 | 1 month | Wolman | [c.894G>C]; [c.894G>C] | [p. Q298H]; [p. Q298H] | – | Yes | – | – | Yes | Yes | Yes | Yes | – | – | – | – | – | – |
| F12 | W14 | 2 months | Wolman | [c.398delC]; [c.398delC] | [p. S133X]; [p. S133X] | Yes | – | – | – | – | Yes | Yes | Yes | Yes | – | – | – | – | – |
| F13 | W3 | 33 years | CESD | [c.894G>A]; [c.894G>A] | [p. S275_298del]; [p. S275_298del] | – | – | – | – | – | Yes | – | – | – | – | – | Yes | Yes | Yes |
| F14 | W8 | 9 years | CESD | [c.894G>A]; [c.894G>A] | [p. S275_298del]; [p. S275_298del] | – | – | – | – | – | Yes | – | – | – | – | – | – | – | – |
| F15 | W9 | 7 years | CESD | [c.894G>A]; [c.894G>A] | [p. S275_298del]; [p. S275_298del] | – | – | – | – | – | Yes | – | – | – | – | Yes | – | – | Yes |
| F16 | W17 | 2.5 years | CESD | [c.894G>A]; [c.894G>A] | [p. S275_298del]; [p. S275_298del] | – | – | – | – | – | Yes | – | – | – | – | Yes | – | Yes | Yes |
| F17 | W11 | 3 years | CESD | [c.894G>A]; [c.256C>T] | [p. S275_298del]; [p. H86Y] | – | – | – | – | – | Yes | – | – | – | – | Yes | – | Yes | – |
| F18 | W12 | 15 years | CESD | [c.894G>A]; [c.386A>G] | [p. S275_298del]; [p. H129R] | – | – | – | – | Yes | Yes | – | – | – | – | Yes | – | Yes | Yes |
| F19 | W21 | 10 years | CESD | [c.894G>A]; [c.398delC] | [p. S275_298del]; [p. S133X] | – | – | – | – | Yes | Yes | – | – | – | – | Yes | – | Yes | Yes |
| F20 | W20 | 11 years | CESD | [c.386A>G]; [c.386A>G] | [p. H129R]; [p. H129R] | – | – | – | – | – | – | – | – | – | – | – | – | – | – |
| F21 | W19 | 11 years | CESD | [c.386A>G]; [c.230-33_230dup; c.232_245del] | [p. H129R]; [p. G77fsX82] | – | – | – | – | Yes | Yes | Yes | – | – | – | – | Yes | Yes | Yes |
| F22 | W4 | 26 years | CESD | [c.386A>G]; [c.1055_1057del] | [p. H129R]; [p. D352del] | – | – | – | – | Yes | Yes | Yes | – | – | – | – | Yes | Yes | Yes |
In bold novel mutations. Cons consanguinity, AD abdominal distension, D/MD dystonia/muscular dystrophy, H hypotonia, PD ponderal delay, HM hepatomegaly, SM splenomegaly, SGS suprarenal gland stones, V vomiting, D diarrhea, HCH hypercholesterolemia, LC liver cirrhosis, HT hypertriglyceridemia, HTR high transaminases, ND no data, (−) no data