Table 1. Gene variations detected in patients with ALPS or DALD.
|
Patients (gender)
|
Diagnosis
|
Fas function*
|
FAS
|
UNC13D
|
||||
|---|---|---|---|---|---|---|---|---|
| Pt | Pt | F | M | Variation | Inh† | Variation | Inh† | |
| Pt.1 (female) | ALPS-FAS | D | D | N | p.Gln273His | F | p.Arg928Cys | M |
| (c.819G>C) | (c.2782C>T) | or F‡ | ||||||
| Pt.2 (male) | ALPS-FAS | D | ND | ND | p.Glu261Lys | F | p.Cys112Ser | M |
| (c.755G>A) | (c.335C>G) | |||||||
| Pt.3 (female) | ALPS-U | D | D | D | p.Ala59Thr | M | ||
| (c.175G>A) | ||||||||
| Pt.4 (male) | ALPS-U | D | D | D | p.Ile848Leu | M | ||
| (c.2542A>C) | ||||||||
| p.Ala995Pro | M | |||||||
| (c.2983G>C) | ||||||||
| Pt.5 (female) | ALPS-U | D | ND | ND | p.Val781Ile | ND | ||
| (c.2342G>A) | ||||||||
| Pt.6 (male) | DALD | D | D | D | p.Ala59Thr | F | ||
| (c.175G>A) | ||||||||
| Pt.7 (female) | DALD | D | D | D | p.Arg928Cys | M | ||
| (c.2782C>T) | ||||||||
| Pt.8 (male) | DALD | D | D | ND | p.Arg928Cys | ND | ||
| (c.2782C>T) | ||||||||
* D = defectve, N = normal, Pt = patient, F = father, M = mother
† Inheritance, F = father, M = mother; ND = not determined; no parent displayed ALPS, DALD, XLP, or FHL; Pt.1’s mother had rheumatoid arthritis.
‡ both parents carried the variation.