Mutant CHUK and severe fetal encasement malformation

J. Lahtela, H. O. Nousiainen, V. Stefanovic, J. Tallila, Heli Viskari, R. Karikoski, M. Gentile, C. Saloranta, T. Varilo, R. Salonen, M. Kestilä

Research output: Contribution to journalArticleScientificpeer-review

29 Citations (Scopus)

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 IκB kinase α. 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.)
Original languageEnglish
Pages (from-to)1631-1637
Number of pages7
JournalNew England Journal of Medicine
Volume363
Issue number17
DOIs
Publication statusPublished - 2010
MoE publication typeA1 Journal article-refereed

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Phosphotransferases
Skin
Genetic Association Studies
Finland
Point Mutation
Epidermis
Fetus
Extremities
Gene Expression
Clinical Studies

Cite this

Lahtela, J., Nousiainen, H. O., Stefanovic, V., Tallila, J., Viskari, H., Karikoski, R., ... Kestilä, M. (2010). Mutant CHUK and severe fetal encasement malformation. New England Journal of Medicine, 363(17), 1631-1637. https://doi.org/10.1056/NEJMoa0911698
Lahtela, J. ; Nousiainen, H. O. ; Stefanovic, V. ; Tallila, J. ; Viskari, Heli ; Karikoski, R. ; Gentile, M. ; Saloranta, C. ; Varilo, T. ; Salonen, R. ; Kestilä, M. / Mutant CHUK and severe fetal encasement malformation. In: New England Journal of Medicine. 2010 ; Vol. 363, No. 17. pp. 1631-1637.
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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 IκB kinase α. 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.)",
author = "J. Lahtela and Nousiainen, {H. O.} and V. Stefanovic and J. Tallila and Heli Viskari and R. Karikoski and M. Gentile and C. Saloranta and T. Varilo and R. Salonen and M. Kestil{\"a}",
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Lahtela, J, Nousiainen, HO, Stefanovic, V, Tallila, J, Viskari, H, Karikoski, R, Gentile, M, Saloranta, C, Varilo, T, Salonen, R & Kestilä, M 2010, 'Mutant CHUK and severe fetal encasement malformation', New England Journal of Medicine, vol. 363, no. 17, pp. 1631-1637. https://doi.org/10.1056/NEJMoa0911698

Mutant CHUK and severe fetal encasement malformation. / Lahtela, J.; Nousiainen, H. O.; Stefanovic, V.; Tallila, J.; Viskari, Heli; Karikoski, R.; Gentile, M.; Saloranta, C.; Varilo, T.; Salonen, R.; Kestilä, M.

In: New England Journal of Medicine, Vol. 363, No. 17, 2010, p. 1631-1637.

Research output: Contribution to journalArticleScientificpeer-review

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T1 - Mutant CHUK and severe fetal encasement malformation

AU - Lahtela, J.

AU - Nousiainen, H. O.

AU - Stefanovic, V.

AU - Tallila, J.

AU - Viskari, Heli

AU - Karikoski, R.

AU - Gentile, M.

AU - Saloranta, C.

AU - Varilo, T.

AU - Salonen, R.

AU - Kestilä, M.

PY - 2010

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AB - 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 IκB kinase α. 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.)

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DO - 10.1056/NEJMoa0911698

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Lahtela J, Nousiainen HO, Stefanovic V, Tallila J, Viskari H, Karikoski R et al. Mutant CHUK and severe fetal encasement malformation. New England Journal of Medicine. 2010;363(17):1631-1637. https://doi.org/10.1056/NEJMoa0911698