Restrictive dermopathy and ZMPST E24 mutations in mennonites: Evidence for allelic heterogeneity

American Journal of Medical Genetics, Part A

Volumn 152, Issue 8, 2010, Pages 2140-2141

  Miner, Jeffrey H ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN A; METALLOPROTEINASE; PROTEIN ZMPSTE24; UNCLASSIFIED DRUG; MEMBRANE PROTEIN; ZMPSTE24 PROTEIN, HUMAN;

CANADA; CASE REPORT; ETHNICITY; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HUMAN; LETTER; PRIORITY JOURNAL; RELIGION; SKIN DISEASE; GENETICS; MUTATION; NOTE;

CHRISTIANITY; GENETIC HETEROGENEITY; HUMANS; MEMBRANE PROTEINS; METALLOENDOPEPTIDASES; MUTATION; SKIN DISEASES;

EID: 77955284086     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33503     Document Type: Letter

References (13)

1. Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Moller LB, Innes AM. 2008. Clinical genetics and the Hutterite population: A review of Mendelian disorders. Am J Med Genet A 146A: 1088-1098.
2. Chen M, Kuo HH, Huang YC, Ke YY, Chang SP, Chen CP, Lee DJ, Lee ML, Lee MH, Chen TH, Chen CH, Lin HM, Liu CS, Ma GC. 2009. A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene. Am J Med Genet A 149A:1550-1554.
3. Davies BS, Fong LG, Yang SH, Coffinier C, Young SG. 2009. The posttranslational processing of prelamin A and disease. Annu Rev Genomics Hum Genet 10:153-174.
4. Li C. 2010. Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption. Am J Med Genet Part A 152A:262-263.
5. Lowry RB, Machin GA, Morgan K, Mayock D, Marx L. 1985. Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: A fatal syndrome in Hutterite and Mennonite kindreds. Am J Med Genet 22:531-543. (Pubitemid 16247874)
6. Moulson CL, Go G, Gardner JM, van der Wal A, Sillevis Smitt JH, van Hagen JM, Miner JH. 2005. Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. J Invest Dermatol 125:913-919.
7. Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Levy N. 2004. Lamin A and ZMPSTE24 (FACE-1) defects causenuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 13:2493-2503.
8. Navarro CL, Cadinanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, Boyer A, Kleijer WJ, Wagner A, Giuliano F, Beemer FA, Freije JM, Cau P, Hennekam RC, Lopez-Otin C, Badens C, Levy N. 2005. Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Hum Mol Genet 14:1503-1513. (Pubitemid 40823459)
9. Orton NC, Innes AM, Chudley AE, Bech-Hansen NT. 2008. Unique disease heritage of the Dutch - German Mennonite population. Am J Med Genet Part A 146A:1072-1087.
10. Puffenberger EG. 2003. Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania. Am J Med Genet Part C 121C:18-31.
11. Smigiel R, Jakubiak A, Esteves-Vieira V, Szela K, Halon A, Jurek T, Levy N, De Sandre-Giovannoli A. 2010. Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature. Am J Med Genet Part A 152A:447-452.
12. Strauss KA, Puffenberger EG. 2009. Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-536.
13. Young SG, Meta M, Yang SH, Fong LG. 2006. Prelamin A farnesylation and progeroid syndromes. J Biol Chem 281:39741-39745.