Advanced search
1 file | 3.57 MB

Retinitis pigmentosa, cutis laxa and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations

Author
Organization
Abstract
GGCX mutations have been reported in patients with a pseudoxanthoma elasticum (PXE)-like phenotype, loose redundant skin, with multiple Vitamin K-dependent coagulation factor deficiencies. We report on the clinical findings and molecular results in 13 affected members of two families who had a uniform phenotype consisting of (PXE)-like skin manifestations in neck and trunk, loose sagging skin of trunk and upper limbs, and retinitis pigmentosa (RP) confirmed by ElectroRetinoGraphies in 10 affected individuals. There were no coagulation abnormalities. Molecular investigations of the ATP-Binding Cassette subfamily C member 6 (ABCC6) did not yield causative mutations. All 13 affected family members were found to be homozygous for the splice-site mutation c.373+3 G>T in the Gamma-Glutamyl carboxylase (GGCX) gene. All tested parents were heterozygous for the mutation, and healthy siblings were either heterozygous or had the wild-type. We suggest that the present patients represent a hitherto unreported phenotype associated with GGCX mutations. Di-genic inheritance has been suggested to explain the variability in phenotype in GGCX mutation carriers. Consequently, the present phenotype may not be explained only by the GGCX mutations only but may be influenced by variants in other genes or epigenetic and environmental factors.
Keywords
COMBINED DEFICIENCY, CALCIFICATION, BLOOD-COAGULATION FACTORS, VITAMIN-K, DEPENDENT CLOTTING FACTORS, MOLECULAR-GENETICS, PUTATIVE PATHOMECHANISMS, ABCC6 GENE, PHENOTYPE, REGION

Downloads

  • (...).pdf
    • full text
    • |
    • UGent only
    • |
    • PDF
    • |
    • 3.57 MB

Citation

Please use this url to cite or link to this publication:

Chicago
Kariminejad, Ariana, Bita Bozorgmehr, Abdolhamid Najafi, Atefeh Khoshaeen, Maryam Ghalandari, Hossein Najmabadi, Mohamad Hasan Kariminejad, et al. 2014. “Retinitis Pigmentosa, Cutis Laxa and Pseudoxanthoma Elasticum-like Skin Manifestations Associated with GGCX Mutations.” Journal of Investigative Dermatology 134 (9): 2331–2338.
APA
Kariminejad, A., Bozorgmehr, B., Najafi, A., Khoshaeen, A., Ghalandari, M., Najmabadi, H., Hasan Kariminejad, M., et al. (2014). Retinitis pigmentosa, cutis laxa and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 134(9), 2331–2338.
Vancouver
1.
Kariminejad A, Bozorgmehr B, Najafi A, Khoshaeen A, Ghalandari M, Najmabadi H, et al. Retinitis pigmentosa, cutis laxa and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations. JOURNAL OF INVESTIGATIVE DERMATOLOGY. 2014;134(9):2331–8.
MLA
Kariminejad, Ariana, Bita Bozorgmehr, Abdolhamid Najafi, et al. “Retinitis Pigmentosa, Cutis Laxa and Pseudoxanthoma Elasticum-like Skin Manifestations Associated with GGCX Mutations.” JOURNAL OF INVESTIGATIVE DERMATOLOGY 134.9 (2014): 2331–2338. Print.
@article{4368430,
  abstract     = {GGCX mutations have been reported in patients with a pseudoxanthoma elasticum (PXE)-like phenotype, loose redundant skin, with multiple Vitamin K-dependent coagulation factor deficiencies. We report on the clinical findings and molecular results in 13 affected members of two families who had a uniform phenotype consisting of (PXE)-like skin manifestations in neck and trunk, loose sagging skin of trunk and upper limbs, and retinitis pigmentosa (RP) confirmed by ElectroRetinoGraphies in 10 affected individuals. There were no coagulation abnormalities. Molecular investigations of the ATP-Binding Cassette subfamily C member 6 (ABCC6) did not yield causative mutations. All 13 affected family members were found to be homozygous for the splice-site mutation c.373+3 G>T in the Gamma-Glutamyl carboxylase (GGCX) gene. All tested parents were heterozygous for the mutation, and healthy siblings were either heterozygous or had the wild-type. We suggest that the present patients represent a hitherto unreported phenotype associated with GGCX mutations. Di-genic inheritance has been suggested to explain the variability in phenotype in GGCX mutation carriers. Consequently, the present phenotype may not be explained only by the GGCX mutations only but may be influenced by variants in other genes or epigenetic and environmental factors.},
  author       = {Kariminejad, Ariana and Bozorgmehr, Bita and Najafi, Abdolhamid and Khoshaeen, Atefeh and Ghalandari, Maryam and Najmabadi, Hossein and Hasan Kariminejad, Mohamad and Vanakker, Olivier and Hosen, Mohammad Jakir and Malfait, Fransiska and Quaglino, Daniela and Florijn, Ralph J and Bergen, Arthur AB and Hennekam, Raoul C},
  issn         = {0022-202X},
  journal      = {JOURNAL OF INVESTIGATIVE DERMATOLOGY},
  keywords     = {COMBINED DEFICIENCY,CALCIFICATION,BLOOD-COAGULATION FACTORS,VITAMIN-K,DEPENDENT CLOTTING FACTORS,MOLECULAR-GENETICS,PUTATIVE PATHOMECHANISMS,ABCC6 GENE,PHENOTYPE,REGION},
  language     = {eng},
  number       = {9},
  pages        = {2331--2338},
  title        = {Retinitis pigmentosa, cutis laxa and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations},
  url          = {http://dx.doi.org/10.1038/jid.2014.191},
  volume       = {134},
  year         = {2014},
}

Altmetric
View in Altmetric
Web of Science
Times cited: