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Am J Med Genet A. 2007 Sep 15;143A(18):2172-7.

Zellweger syndrome resulting from maternal isodisomy of chromosome 1.

Author information

1
Wessex Clinical Genetics Service, Southampton University Hospital NHS Trust, Princess Anne Hospital, Coxford Road, Southampton, UK. claire.turner@suht.swest.nhs.uk

Abstract

Zellweger syndrome (ZS) is an autosomal recessive peroxisomal disorder that results from mutations in one of the peroxisome biogenesis (PEX) genes. This is the first patient reported with uniparental disomy (UPD) resulting in ZS, in this case maternal isodisomy of chromosome 1 involving reduction to homoallelism of a frameshift mutation within PEX 10. Other reported cases of UPD1, and evidence for the imprinting of genes on chromosome 1, are reviewed. The molecular findings in this patient have important implications for molecular testing and genetic counseling in ZS.

PMID:
17702006
DOI:
10.1002/ajmg.a.31912
[Indexed for MEDLINE]

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