Mutations in ABCC6 cause pseudoxanthoma elasticum

Arthur A.B. Bergen; Astrid S. Plomp; Ellen J. Schuurman; Sharon Terry; Martijn Breuning; Hans Dauwerse; Jaap Swart; Marcel Kool; Simone Van Soest; Frank Baas; Jacoline B. Ten Brink; Paulus T.V.M. De Jong

doi:10.1038/76109

Mutations in ABCC6 cause pseudoxanthoma elasticum

Arthur A.B. Bergen, Astrid S. Plomp, Ellen J. Schuurman, Sharon Terry, Martijn Breuning, Hans Dauwerse, Jaap Swart, Marcel Kool, Simone Van Soest, Frank Baas, Jacoline B. Ten Brink, Paulus T.V.M. De Jong

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Pseudoxanthoma elasticum (PXE) is a heritable disorder of the connective tissue. PXE patients frequently experience visual field loss and skin lesions, and occasionally cardiovascular complications. Histopathological findings reveal calcification of the elastic fibres and abnormalities of the collagen fibrils. Most PXE patients are sporadic, but autosomal recessive and dominant inheritance are also observed. We previously localized the PXE gene to chromosome 16p13.1 (refs 8,9) and constructed a physical map. Here we describe homozygosity mapping in five PXE families and the detection of deletions or mutations in ABCC6(formerly MRP6) associated with all genetic forms of PXE in seven patients or families.

Originele taal-2	Engels
Pagina's (van-tot)	228-231
Aantal pagina's	4
Tijdschrift	Nature Genetics
Volume	25
Nummer van het tijdschrift	2
DOI's	https://doi.org/10.1038/76109
Status	Gepubliceerd - jun. 2000
Extern gepubliceerd	Ja

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@article{528f0a688419428d8d344c2e81ed54b3,

title = "Mutations in ABCC6 cause pseudoxanthoma elasticum",

abstract = "Pseudoxanthoma elasticum (PXE) is a heritable disorder of the connective tissue. PXE patients frequently experience visual field loss and skin lesions, and occasionally cardiovascular complications. Histopathological findings reveal calcification of the elastic fibres and abnormalities of the collagen fibrils. Most PXE patients are sporadic, but autosomal recessive and dominant inheritance are also observed. We previously localized the PXE gene to chromosome 16p13.1 (refs 8,9) and constructed a physical map. Here we describe homozygosity mapping in five PXE families and the detection of deletions or mutations in ABCC6(formerly MRP6) associated with all genetic forms of PXE in seven patients or families.",

author = "Bergen, {Arthur A.B.} and Plomp, {Astrid S.} and Schuurman, {Ellen J.} and Sharon Terry and Martijn Breuning and Hans Dauwerse and Jaap Swart and Marcel Kool and {Van Soest}, Simone and Frank Baas and {Ten Brink}, {Jacoline B.} and {De Jong}, {Paulus T.V.M.}",

note = "Funding Information: We thank C. Boyd for sharing unpublished data; R.J. Oostra, R. Hennekam, N.T. Tijmes, P. van den Berg, L. Kornet, J.R.M. Cruysberg and F. Steijlen for examination of patients; F. Cremers, C. de Vries and J. Wijnholds for RNA of different tissues; M. Lettink, M.T. van Meegen and D. Schildknegt for technical assistance; and the PXE families for their support. This study was supported by a ANVtVB-grant to A.A.B.B.",

year = "2000",

month = jun,

doi = "10.1038/76109",

language = "English",

volume = "25",

pages = "228--231",

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T1 - Mutations in ABCC6 cause pseudoxanthoma elasticum

AU - Bergen, Arthur A.B.

AU - Plomp, Astrid S.

AU - Schuurman, Ellen J.

AU - Terry, Sharon

AU - Breuning, Martijn

AU - Dauwerse, Hans

AU - Swart, Jaap

AU - Kool, Marcel

AU - Van Soest, Simone

AU - Baas, Frank

AU - Ten Brink, Jacoline B.

AU - De Jong, Paulus T.V.M.

N1 - Funding Information: We thank C. Boyd for sharing unpublished data; R.J. Oostra, R. Hennekam, N.T. Tijmes, P. van den Berg, L. Kornet, J.R.M. Cruysberg and F. Steijlen for examination of patients; F. Cremers, C. de Vries and J. Wijnholds for RNA of different tissues; M. Lettink, M.T. van Meegen and D. Schildknegt for technical assistance; and the PXE families for their support. This study was supported by a ANVtVB-grant to A.A.B.B.

PY - 2000/6

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N2 - Pseudoxanthoma elasticum (PXE) is a heritable disorder of the connective tissue. PXE patients frequently experience visual field loss and skin lesions, and occasionally cardiovascular complications. Histopathological findings reveal calcification of the elastic fibres and abnormalities of the collagen fibrils. Most PXE patients are sporadic, but autosomal recessive and dominant inheritance are also observed. We previously localized the PXE gene to chromosome 16p13.1 (refs 8,9) and constructed a physical map. Here we describe homozygosity mapping in five PXE families and the detection of deletions or mutations in ABCC6(formerly MRP6) associated with all genetic forms of PXE in seven patients or families.

AB - Pseudoxanthoma elasticum (PXE) is a heritable disorder of the connective tissue. PXE patients frequently experience visual field loss and skin lesions, and occasionally cardiovascular complications. Histopathological findings reveal calcification of the elastic fibres and abnormalities of the collagen fibrils. Most PXE patients are sporadic, but autosomal recessive and dominant inheritance are also observed. We previously localized the PXE gene to chromosome 16p13.1 (refs 8,9) and constructed a physical map. Here we describe homozygosity mapping in five PXE families and the detection of deletions or mutations in ABCC6(formerly MRP6) associated with all genetic forms of PXE in seven patients or families.

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Mutations in ABCC6 cause pseudoxanthoma elasticum

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