Restrictive dermopathy, lethal
| Disorder | |
|---|---|
| OMIM #: | #275210 (Click to access OMIM database) |
| Disorder: | Restrictive dermopathy, lethal |
| Also known as: | |
| Clinical | |
| Phenotype: | intrauterine growth deficiency, polyhydramnios, tight and rigid skin, skin erosions, skin fissures, epidermal hyperkeratosis, cutaneous telangiectasia, sparse hair for eyelashes and eyebrows, ossification abnormalities, thin dysplastic clavicles, rocker bottom feet, pulmonary hypoplasia, contractures, facial dysmorphism, 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. Autosomal recessive |
| 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: | 2025-01-13 |
| References |
|---|
| Grist J, Green R, Lodha A, Hunter C, Lach K, Phung T, Perrier R, Ramien M. (2024) A case of restrictive dermopathy in a Hutterite newborn: Diagnosis and creative skin-directed management. Pediatr Dermatol Sep-Oct;41(5):942-944. PubMed ID: 38965877 |
| 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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