Zellweger syndrome resulting from maternal isodisomy of chromosome 1.
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.
Turner
Claire L S
CL
Wessex Clinical Genetics Service, Southampton University Hospital NHS Trust, Princess Anne Hospital, Coxford Road, Southampton, UK. claire.turner@suht.swest.nhs.uk
Bunyan
David J
DJ
Thomas
N Simon
NS
Mackay
Deborah J G
DJ
Jones
Huw P
HP
Waterham
Hans R
HR
Wanders
Ronald J A
RJ
Temple
I Karen
IK
D002878:Chromosomes, Human, Pair 1; D005260:Female; D018392:Genomic Imprinting; D006801:Humans; D007231:Infant, Newborn; D000074401:Peroxins; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics; D015211:Zellweger Syndrome / Q000235:genetics*
C116156:PEX10 protein, human; D000074401:Peroxins; D018160:Receptors, Cytoplasmic and Nuclear