Amish, Mennonite, and Hutterite
Genetic Disorder Database

Restrictive dermopathy, lethal

Disorder
OMIM #: #275210  (Click to access OMIM database)
Disorder: Restrictive dermopathy, lethal 
Also known as:  
Clinical
Phenotype: intrauterine growth deficiency, tight and rigid skin with erosions, epidermal hyperkeratosis, cutaneous telangiectasia, micrognathia, microstomia, sparse hair for eyelashes and eyebrows, ossification abnormalities, thin dysplastic clavicles, rocker bottom feet, pulmonary hypoplasia, joint limitation and/or contractures, sudden death of neonate in most cases  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
ReferencesLoucks C, Parboosingh JS, Chong JX, Ober C, Siu VM, Hegele RA, Rupar CA, McLeod DR, Pinto A, Chudley AE, Innes AM. (2012) A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America. Am J Med Genet A May;158A(5):1229-32.
PubMed ID: 22495976
1   Old Order Mennonite  
Gene: ZMPSTE24
Base Change: dupT , at nucleotide 54
Amino Acid Change: Frame shift
2   Old Colony Mennonite, Hutterite  
Gene: ZMPSTE24
Base Change: dupT, at nucleotide 1085
Amino Acid Change: Frame shift
Last updated: 2018-04-19 

References
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 A Jan;152A(1):262-3.
PubMed ID: 20034068 
Loucks C, Parboosingh JS, Chong JX, Ober C, Siu VM, Hegele RA, Rupar CA, McLeod DR, Pinto A, Chudley AE, Innes AM. (2012) A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America. Am J Med Genet A May;158A(5):1229-32.
PubMed ID: 22495976 
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 Nov;22(3):531-43.
PubMed ID: 3840649 
Moulson CL, Go G, van der Wal AC, Smitt J, van Hagen JM, Miner JH. (2005) Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. J Invest Dermatol. 5: 913–919.
PubMed ID: 16297189 
Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Geneviève 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, Lévy N. (2004) Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet Oct 15;13(20):2493-503.
PubMed ID: 15317753 

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