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Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families

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Organization
Abstract
A multidisciplinary survey of the clinical and genetic characteristics of 26 Belgian and 32 Afrikaner families with biopsy-proven pseudoxanthoma elasticum (PXE) was undertaken. The major PXE phenotype emerging from this study is very similar in both patient groups and is characterized by severe ophthalmologic manifestations with variable, mild cutaneous and vascular symptoms. In the families with more than one affected relative, segregation analysis is compatible with autosomal recessive inheritance in both groups. It is suggested that the PXE phenotype of these Belgian and Afrikaner patients is distinct from the other recognized PXE subtypes. The phenotypic resemblance in both patient groups raises the question whether a similar genetic mechanism is involved.
Keywords
CLINICAL AND GENETIC HETEROGENEITY, AUTOSOMAL RECESSIVE INHERITANCE, ELASTIN, HETEROGENEITY, SEVERE RETINOPATHY

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Chicago
De Paepe, Anne, D Viljaan, M Matton, P Beighton, V Lenaerts, K Vossaert, S De Bie, D Voet, Jean Delaey, and André Kint. 1991. “Pseudoxanthoma Elasticum: Similar Autosomal Recessive Subtype in Belgian and Afrikaner Families.” American Journal of Medical Genetics 38 (1): 16–20.
APA
De Paepe, Anne, Viljaan, D., Matton, M., Beighton, P., Lenaerts, V., Vossaert, K., De Bie, S., et al. (1991). Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families. AMERICAN JOURNAL OF MEDICAL GENETICS, 38(1), 16–20.
Vancouver
1.
De Paepe A, Viljaan D, Matton M, Beighton P, Lenaerts V, Vossaert K, et al. Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families. AMERICAN JOURNAL OF MEDICAL GENETICS. 1991;38(1):16–20.
MLA
De Paepe, Anne, D Viljaan, M Matton, et al. “Pseudoxanthoma Elasticum: Similar Autosomal Recessive Subtype in Belgian and Afrikaner Families.” AMERICAN JOURNAL OF MEDICAL GENETICS 38.1 (1991): 16–20. Print.
@article{225395,
  abstract     = {A multidisciplinary survey of the clinical and genetic characteristics of 26 Belgian and 32 Afrikaner families with biopsy-proven pseudoxanthoma elasticum (PXE) was undertaken. The major PXE phenotype emerging from this study is very similar in both patient groups and is characterized by severe ophthalmologic manifestations with variable, mild cutaneous and vascular symptoms. In the families with more than one affected relative, segregation analysis is compatible with autosomal recessive inheritance in both groups. It is suggested that the PXE phenotype of these Belgian and Afrikaner patients is distinct from the other recognized PXE subtypes. The phenotypic resemblance in both patient groups raises the question whether a similar genetic mechanism is involved.},
  author       = {De Paepe, Anne and Viljaan, D and Matton, M and Beighton, P and Lenaerts, V and Vossaert, K and De Bie, S and Voet, D and Delaey, Jean and Kint, Andr{\'e}},
  issn         = {0148-7299},
  journal      = {AMERICAN JOURNAL OF MEDICAL GENETICS},
  language     = {eng},
  number       = {1},
  pages        = {16--20},
  title        = {Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families},
  volume       = {38},
  year         = {1991},
}