Mutant CHUK and severe fetal encasement malformation.
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Lahtela J, Nousiainen HO, Stefanovic V, Tallila J, Viskari H, Karikoski R, Gentile M, Saloranta C, Varilo T, Salonen R, Kestila M
Mutant CHUK and severe fetal encasement malformation.
N Engl J Med. 2010 Oct 21;363(17):1631-7. doi: 10.1056/NEJMoa0911698.
- PubMed ID
- 20961246 [ View in PubMed]
- Abstract
We report an autosomal recessive lethal syndrome characterized by multiple fetal malformations, the most obvious anomalies being the defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. We identified the molecular defect that causes this syndrome, using a combined strategy of gene-expression arrays, candidate-gene analysis, clinical studies, and genealogic investigations. A point mutation in two affected fetuses led to the loss of the conserved helix-loop-helix ubiquitous kinase (CHUK), also known as IkappaB kinase alpha. CHUK has an essential role in the development of skin epidermis and its derivatives, along with various other morphogenetic events. (Funded by the Academy of Finland and others.).