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Table 1 Demographics, and biochemical and molecular  characteristics

From: Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up

 

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)

  1. Reference sequence NM_000235.4. n.a. not available, WBC white blood cells, DBS dried blood spot