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Zellweger syndrome resulting from maternal isodisomy of chromosome

Zellweger syndrome resulting from maternal isodisomy of chromosome
Zellweger syndrome resulting from maternal isodisomy of chromosome
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
report, frameshift mutation, cytoplasmic and nuclear, counseling, syndrome, mutation, receptors, zellweger syndrome, newborn, humans, human, infant, female, genes, protein, genetic counseling, pair 1, genomic imprinting, chromosomes, uniparental disomy, genetics
2172-2177
Turner, C.L.
2a2667d5-4761-42d2-8342-77840b4fdb8f
Bunyan, D.J.
41347b93-e79b-4026-93f9-dd1004cfa05e
Thomas, N.S.
df2d7c6d-2c96-4aaa-a7ef-7f7987759cf4
Mackay, D.J.
588a653e-9785-4a00-be71-4e547850ee4a
Jones, H.P.
df61f57f-6cbd-40af-a929-2b2efe186b36
Waterham, H.R.
3fc4163e-12a9-4c11-9d15-7cda84c675a5
Wanders, R.J.
aa7004aa-7c2f-4040-862a-ee5ff239f7e3
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Turner, C.L.
2a2667d5-4761-42d2-8342-77840b4fdb8f
Bunyan, D.J.
41347b93-e79b-4026-93f9-dd1004cfa05e
Thomas, N.S.
df2d7c6d-2c96-4aaa-a7ef-7f7987759cf4
Mackay, D.J.
588a653e-9785-4a00-be71-4e547850ee4a
Jones, H.P.
df61f57f-6cbd-40af-a929-2b2efe186b36
Waterham, H.R.
3fc4163e-12a9-4c11-9d15-7cda84c675a5
Wanders, R.J.
aa7004aa-7c2f-4040-862a-ee5ff239f7e3
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226

Turner, C.L., Bunyan, D.J., Thomas, N.S., Mackay, D.J., Jones, H.P., Waterham, H.R., Wanders, R.J. and Temple, I.K. (2007) Zellweger syndrome resulting from maternal isodisomy of chromosome. American Journal of Medical Genetics: Part A, 143A (18), 2172-2177.

Record type: Article

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

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More information

Published date: 2007
Keywords: report, frameshift mutation, cytoplasmic and nuclear, counseling, syndrome, mutation, receptors, zellweger syndrome, newborn, humans, human, infant, female, genes, protein, genetic counseling, pair 1, genomic imprinting, chromosomes, uniparental disomy, genetics
Organisations: Medicine

Identifiers

Local EPrints ID: 60340
URI: http://eprints.soton.ac.uk/id/eprint/60340
PURE UUID: a96cc85c-497c-4f80-9665-481123bcfe66
ORCID for D.J. Mackay: ORCID iD orcid.org/0000-0003-3088-4401
ORCID for I.K. Temple: ORCID iD orcid.org/0000-0002-6045-1781

Catalogue record

Date deposited: 03 Sep 2008
Last modified: 12 Nov 2019 01:54

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Contributors

Author: C.L. Turner
Author: D.J. Bunyan
Author: N.S. Thomas
Author: D.J. Mackay ORCID iD
Author: H.P. Jones
Author: H.R. Waterham
Author: R.J. Wanders
Author: I.K. Temple ORCID iD

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