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

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

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Al-Dirbashi, O. Y. Shaheen, R. Al-Sayed, M. Al-Dosari, M. Makhseed, N. Abu Safieh, L. Santa, T. Meyer, B. F. Shimozawa, N. Alkuraya, F. S.
Description	Country affiliation: Saudi Arabia Author Affiliation: Al-Dirbashi OY ( National Laboratory for Newborn Screening, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.)
Abstract	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 PEX13, which encodes peroxisomal membrane protein PEX13, 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 PEX13. One patient had a genomic rearrangement resulting in a 147 kb deletion that spans the whole of PEX13, while the other had an out-of-frame deletion of 14 bp. This represents the first report of a PEX13 deletion and suggests that further work is needed to examine the frequency of PEX13 mutations among Arab patients with peroxisomal biogenesis disorders.
File Format	HTM / HTML
ISSN	15524825
Issue Number	6
Volume Number	149A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2009-06-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Frameshift Mutation Membrane Proteins Deficiency Sequence Deletion Zellweger Syndrome Genetics Base Sequence Fibroblasts Metabolism Pathology Gene Rearrangement Genetic Complementation Test Humans Infant Molecular Sequence Data Journal Article
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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