A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East

British Journal of Dermatology

Volumn 159, Issue 4, 2008, Pages 961-967

  Sander, C S ^a   Salman, N ^a   Van Geel, M ^b,c   Broers, J L V ^c,d,e   Al Rahmani, A ^a   Chedid, F ^a   Hausser, I ^f   Oji, V ^g   Al Nuaimi, K ^a   Berger, T G ^a,h   Verstraeten, V L R M ^b,c,i  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^c MAASTRICHT UNIVERSITY   (Netherlands)

^d MAASTRICHT UNIVERSITY   (Netherlands)

^e EINDHOVEN UNIVERSITY OF TECHNOLOGY   (Netherlands)

^f UNIVERSITY OF HEIDELBERG   (Germany)

^g UNIVERSITY OF MÜNSTER   (Germany)

^h UNIVERSITY HOSPITAL ERLANGEN   (Germany)

ⁱ BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

Donor splice site; Founder mutation; Lymphocyte; Prelamin A

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; DNA ISOLATION; ELECTRON MICROSCOPY; EXON; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; IMMUNOCYTOCHEMISTRY; IMMUNOFLUORESCENCE; LEUKOCYTE; MALE; MIDDLE EAST; PRIORITY JOURNAL; RESTRICTIVE DERMOPATHY; RNA ISOLATION; SKIN BIOPSY; SKIN DISEASE; ZMPSTE24 GENE;

ELASTIC TISSUE; FOUNDER EFFECT; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; METALLOENDOPEPTIDASES; MUTATION; NUCLEAR PROTEINS; PROTEIN PRECURSORS; RNA SPLICE SITES; SKIN ABNORMALITIES; SKIN DISEASES, GENETIC; UNITED ARAB EMIRATES;

EID: 51849099004     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2008.08772.x     Document Type: Article

References (24)

1. Lenz W, Meschede D. Historical note on restrictive dermopathy and report of two new cases. Am J Med Genet 1993 47 : 1235 7.
2. Mau U, Kendziorra H, Kaiser P et al. Restrictive dermopathy: report and review. Am J Med Genet 1997 71 : 179 85.
3. Verloes A, Mulliez N, Gonzales M et al. Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature. Am J Med Genet 1992 43 : 539 47.
4. Pierard-Franchimont C, Pierard GE, Hermanns-Le T et al. Dermatopathological aspects of restrictive dermopathy. J Pathol 1992 167 : 223 8.
5. De Sandre-Giovannoli A, Bernard R, Cau P et al. Lamin A truncation in Hutchinson-Gilford progeria. Science 2003 300 : 2055.
6. Eriksson M, Brown WT, Gordon LB et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 2003 423 : 293 8.
7. Navarro CL, De Sandre-Giovannoli A, Bernard R et al. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 2004 13 : 2493 503.
8. Broers JL, Ramaekers FC, Bonne G et al. Nuclear lamins: laminopathies and their role in premature ageing. Physiol Rev 2006 86 : 967 1008.
9. Verstraeten VL, Broers JL, Ramaekers FC et al. The nuclear envelope, a key structure in cellular integrity and gene expression. Curr Med Chem 2007 14 : 1231 48.
10. Rusinol AE, Sinensky MS. Farnesylated lamins, progeroid syndromes and farnesyl transferase inhibitors. J Cell Sci 2006 119 : 3265 72.
11. Sinensky M, Fantle K, Trujillo M et al. The processing pathway of prelamin A. J Cell Sci 1994 107 : 61 7.
12. Corrigan DP, Kuszczak D, Rusinol AE et al. Prelamin A endoproteolytic processing in vitro by recombinant Zmpste24. Biochem J 2005 387 : 129 38.
13. Moulson CL, Go G, Gardner JM et al. Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. J Invest Dermatol 2005 125 : 913 19.
14. Navarro CL, Cadinanos J, De Sandre-Giovannoli A et al. Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of lamin A precursors. Hum Mol Genet 2005 14 : 1503 13.
15. van Steensel MA, van Geel M, Nahuys M et al. A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. J Invest Dermatol 2002 118 : 724 7.
16. Ewing B, Hillier L, Wendl MC et al. Base-calling of automated sequencer traces using phred. I. Accuracy assessment. Genome Res 1998 8 : 175 85.
17. Ewing B, Green P. Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res 1998 8 : 186 94.
18. Gordon D, Abajian C, Green P. Consed: a graphical tool for sequence finishing. Genome Res 1998 8 : 195 202.
19. Hozak P, Sasseville AM, Raymond Y et al. Lamin proteins form an internal nucleoskeleton as well as a peripheral lamina in human cells. J Cell Sci 1995 108 : 635 44.
20. Venables RS, McLean S, Luny D et al. Expression of individual lamins in basal cell carcinomas of the skin. Br J Cancer 2001 84 : 512 19.
21. Sinensky M, Fantle K, Dalton M. An antibody which specifically recognizes prelamin A but not mature lamin A: application to detection of blocks in farnesylation-dependent protein processing. Cancer Res 1994 54 : 3229 32.
22. Olins AL, Herrmann H, Lichter P et al. Nuclear envelope and chromatin compositional differences comparing undifferentiated and retinoic acid- and phorbol ester-treated HL-60 cells. Exp Cell Res 2001 268 : 115 27.
23. Somech R, Gal-Yam EN, Shaklai S et al. Enhanced expression of the nuclear envelope LAP2 transcriptional repressors in normal and malignant activated lymphocytes. Ann Hematol 2007 86 : 393 401.
24. Verstraeten VL, Broers JL, van Steensel MA et al. Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation. Hum Mol Genet 2006 15 : 2509 22.