Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | |
---|---|---|---|---|---|
Consanguinity | − | + | + | + | + |
Ethnicity | France-North Africa | Ivory Coast | Maroc | Turkey | Eritrea |
Lymphocytes | Vacuolated | n.a | Vacuolated | Vacuolated | n.a |
LIPA activity | |||||
On WBC | 5.1 nmol/h/mg (control: 31.2) | 57 µmol/h/g (normal value: 350–2000) | n.a | n.a | n.a |
On DBS (nmol/punch/h) | n.a | n.a | 0 | 0 | 0 |
LIPA pathogenic variant | |||||
Maternal allele | c.481delA | c.676-2A>G | c.429-1G>C | c.419G>C | c.260G>T |
Paternal allele | c.538G>A | c.676-2A>G | c.429-1G>C | c.419G>C | c.260G>T |
Variant impact | |||||
Maternal allele | p.(Asn161Ilefs*19) | Disrupting splice acceptor site of intron 6 | Disrupting splice acceptor site of intron 4 | p.(Trp140Ser) | p.(Gly87Val) |
Paternal allele | p.(Gly180Ser) | Disrupting splice acceptor site of intron 6 | Disrupting splice acceptor site of intron 4 | p.(Trp140Ser) | p.(Gly87Val) |