Cutis Laxa

Brenner's Encyclopedia of Genetics: Second Edition

Volumn , Issue , 2013, Pages 254-257

  Gardeitchik, T ^a   Morava, E ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

ATP6V0A2; CDG; Cobblestone like brain dysgenesis; Cutis laxa; Elastin; Extracellular matrix; Fibulin 5; Glycosylation; Golgi apparatus; Inborn errors of metabolism; MAP kinase pathway; Mitochondrial function; PYCR1; Wrinkly skin

Indexed keywords

EID: 84896907536     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-374984-0.00367-3     Document Type: Chapter

References (16)

1. Albrecht B., de Brouwer A.P., Lefeber D.J., et al. MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking. American Journal of Medicine Genetics A 2010, 152A(11):2916-2918.
2. Basel-Vanagaite L., Sarig O., Hershkovitz D., et al. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. American Journal of Human Genetics 2009, 85(2):254-263.
3. Guernsey D.L., Jiang H., Evans S.C., et al. Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. American Journal of Human Genetics 2009, 85(1):120-129.
4. Hennies H.C., Kornak U., Zhang H., et al. Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nature Genetics 2008, 40(12):1410-1412.
5. Hucthagowder V., Morava E., Kornak U., et al. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Human Molecular Genetics 2009, 18(12):2149-2165.
6. Kaler S.G. ATP7A-related copper transport diseases-emerging concepts and future trends. Nature Reviews Neurology 2011, 7(1):15-29.
7. Kornak U., Reynders E., Dimopoulou A., et al. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nature Genetics 2008, 40(1):32-34.
8. Loeys B., Van Maldergem L., Mortier G., et al. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Human Molecular Genetics 2002, 11(18):2113-2118.
9. Mohamed M., Kouwenberg D., Gardeitchik T., et al. Metabolic cutis laxa syndromes. Journal of Inherited Metabolic Disease 2011, 34(4):907-916. [Epub].
10. Morava E., Guillard M., Lefeber D.J., Wevers R.A. Autosomal recessive cutis laxa syndrome revisited. European Journal of Human Genetics 2009, 17(9):1099-1110.
11. Morava E., Lefeber D.J., Urban Z., et al. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. European Journal of Human Genetics 2008, 16(1):28-35.
12. Morava E., Wevers R.A., Willemsen M.A., Lefeber D. Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type. Neurology 2009, 73(14):1164.
13. Renard M., Holm T., Veith R., et al. Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. European Journal of Human Genetics 2010, 18(8):895-901.
14. Reversade B., Escande-Beillard N., Dimopoulou A., et al. Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics 2009, 41(9):1016-1021.
15. Van Maldergem L., Loeys B. FBLN5 related cutis laxa. GeneReviews [Internet] 2009, University of Washington, Seattle, WA, (accessed 19 March 2009). http://www.ncbi.nlm.nih.gov/pubmed/20301756, R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.).
16. Nijmegen Center for Disorders of Glycosylation http://www.nijmegencdg.nl.