Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.

[zellweger syndrome]

Peroxisomal biogenesis disorders represent a group of genetically heterogeneous conditions that have in common failure of proper peroxisomal assembly . Clinically , they are characterized by a spectrum of dysmorphia , neurological , liver , and other organ involvement . To date , mutations in 13 PEX genes encoding peroxins have been identified in patients with peroxisomal biogenesis disorders . Mutations in PEX 13 , which encodes peroxisomal membrane protein PEX 13 , are among the least common causes of peroxisomal biogenesis disorders with only three mutations reported so far . Here , we report on two infants whose clinical and biochemical profile was consistent with classical Zellweger syndrome and whose complementation analysis assigned them both to group H of peroxisomal biogenesis disorders . We show that they harbor two novel mutations in PEX 13 . One patient had a genomic rearrangement resulting in a 147 kb deletion that spans the whole of PEX 13 , while the other had an out-of-frame deletion of 14 bp . This represents the first report of a PEX 13 deletion and suggests that further work is needed to examine the frequency of PEX 13 mutations among Arab patients with peroxisomal biogenesis disorders .

Diseases
Validation

Diseases presenting "first report" symptom

achondroplasia

alexander disease

aniridia

cadasil

canavan disease

child syndrome

cohen syndrome

congenital toxoplasmosis

cowden syndrome

cushing syndrome

cutaneous mastocytosis

cystinuria

dedifferentiated liposarcoma

dentinogenesis imperfecta

dracunculiasis

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

esophageal squamous cell carcinoma

fabry disease

familial mediterranean fever

focal myositis

harlequin ichthyosis

hirschsprung disease

hodgkin lymphoma, classical

holt-oram syndrome

homocystinuria without methylmalonic aciduria

inclusion body myositis

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

krabbe disease

lamellar ichthyosis

liposarcoma

lymphangioleiomyomatosis

monosomy 21

neonatal adrenoleukodystrophy

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

omenn syndrome

pendred syndrome

pleomorphic liposarcoma

primary hyperoxaluria type 1

pyomyositis

pyruvate dehydrogenase deficiency

scrub typhus

severe combined immunodeficiency

sneddon syndrome

triple a syndrome

typhoid

waldenström macroglobulinemia

werner syndrome

wiskott-aldrich syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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