A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 5, 2012, Pages 1229-1232

  Loucks, Catrina ^a   Parboosingh, Jillian S ^a   Chong, Jessica X ^b   Ober, Carole ^b   Siu, Victoria M ^c   Hegele, Robert A ^d   Rupar, C Anthony ^c   Mcleod, D Ross ^a   Pinto, Alfredo ^e   Chudley, Albert E ^f   Innes, A Micheil ^a  

^a ALBERTA CHILDREN'S HOSPITAL   (Canada)

^b UNIVERSITY OF CHICAGO   (United States)

^c UNIVERSITY OF WESTERN ONTARIO   (Canada)

^d WESTERN UNIVERSITY   (Canada)

^e UNIVERSITY OF CALGARY   (Canada)

^f UNIVERSITY OF MANITOBA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARTHROGRYPOSIS; AUTOPSY; CASE REPORT; CONSANGUINITY; EAR DISEASE; EYE DISEASE; FEMALE; FOOT DISEASE; GENE MUTATION; GENETIC ASSOCIATION; GERMANY; HETEROZYGOTE; HIP DISEASE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; INFANT; INTUBATION; KNEE DISEASE; LETTER; MALE; MOUTH DISEASE; MUTATOR GENE; NETHERLANDS; NORTH AMERICA; NOSE DISEASE; PALLIATIVE THERAPY; PRIORITY JOURNAL; PUNCH BIOPSY; RESTRICTIVE DERMOPATHY; SKIN BIOPSY; SKIN DISEASE; WRIST DISEASE; ZMPSTE24 GENE;

ETHNIC GROUPS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FOUNDER EFFECT; GENOTYPE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NORTH AMERICA; PROTESTANTISM;

EID: 84859980539     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35302     Document Type: Letter

References (14)

1. Baskin B, Geraghty M, Ray PN. 2010. Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. Am J Med Genet Part A 152A: 1808- 1811.
2. 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 Part A 146A: 1088- 1098.
3. Hostetler JA. 1985. History and relevance of the Hutterite population for genetic studies. Am J Med Genet 22: 453- 462.
4. Li C. 2010a. 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. Li C. 2010b. Response to restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity. Am J Med Genet Part A 152A: 2142.
6. 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- 5543.
7. Miner JH. 2010. Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity. Am J Med Genet Part A 152A: 2140- 2141.
8. Morais P, Magina S, Ribeiro Mdo C, Rodrigues M, Lopes JM, Thanh Hle T, Wehnert M, Guimarães H. 2009. Restrictive dermopathy-A lethal congenital laminopathy. Case report and review of the literature. Eur J Pediatr 168: 1007- 1012.
9. Moulson CL, Go G, Gardner JM, van der Wal AC, 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.
10. Navarro CL, Cadiñanos 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, López-Otín C, Badens C, Lévy N. 2005. Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Hum Mol Genet 14: 1503- 1513.
11. 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.
12. Puffenberger EG. 2003. Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania. Am J Med Genet Part C Semin Med Genet 121C: 18- 31.
13. Reed MH, Chudley AE, Kroeker M, Wilmot DM. 1993. Restrictive dermopathy. Pediatr Radiol 23: 617- 619.
14. Toriello HV, Higgins JV, Waterman DF. 1983. Autosomal-recessive aplasia cutis congenita-Report of two affected sibs. Am J Med Genet 15: 153- 156.