Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome

Emily L. Niemitz, Michael R. DeBaun, Jonathan Fallon, Kazuhiro Murakami, Hiroyuki Kugoh, Mitsuo Oshimura, Andrew P Feinberg

Research output: Contribution to journalArticle

Abstract

Beckwith-Wiedemann syndrome (BWS), which causes prenatal overgrowth, midline abdominal wall defects, macroglossia, and embryonal tumors, is a model for understanding the relationship between genomic imprinting, human development, and cancer. The causes are heterogeneous, involving multiple genes on 11p15 and including infrequent mutation of p57KIP2 or loss of imprinting of either of two imprinted gene domains on 11p15: LIT1, which is near p57KIP2, or H19/IGF2. Unlike Prader-Willi and Angelman syndromes, no chromosomal deletions have yet been identified. Here we report a microdeletion including the entire LIT1 gene, providing genetic confirmation of the importance of this gene region in BWS. When inherited maternally, the deletion causes BWS with silencing of p57KIP2, indicating deletion of an element important for the regulation of p57KIP2 expression. When inherited paternally, there is no phenotype, suggesting that the LIT1 RNA itself is not necessary for normal development in humans.

Original languageEnglish (US)
Pages (from-to)844-849
Number of pages6
JournalAmerican Journal of Human Genetics
Volume75
Issue number5
DOIs
StatePublished - Nov 2004

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Beckwith-Wiedemann Syndrome
Human Development
Genes
Macroglossia
Angelman Syndrome
Genomic Imprinting
Prader-Willi Syndrome
Abdominal Wall
Neoplasms
Phenotype
Mutation

ASJC Scopus subject areas

  • Genetics

Cite this

Niemitz, E. L., DeBaun, M. R., Fallon, J., Murakami, K., Kugoh, H., Oshimura, M., & Feinberg, A. P. (2004). Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome. American Journal of Human Genetics, 75(5), 844-849. https://doi.org/10.1086/425343

Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome. / Niemitz, Emily L.; DeBaun, Michael R.; Fallon, Jonathan; Murakami, Kazuhiro; Kugoh, Hiroyuki; Oshimura, Mitsuo; Feinberg, Andrew P.

In: American Journal of Human Genetics, Vol. 75, No. 5, 11.2004, p. 844-849.

Research output: Contribution to journalArticle

Niemitz, EL, DeBaun, MR, Fallon, J, Murakami, K, Kugoh, H, Oshimura, M & Feinberg, AP 2004, 'Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome', American Journal of Human Genetics, vol. 75, no. 5, pp. 844-849. https://doi.org/10.1086/425343
Niemitz EL, DeBaun MR, Fallon J, Murakami K, Kugoh H, Oshimura M et al. Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome. American Journal of Human Genetics. 2004 Nov;75(5):844-849. https://doi.org/10.1086/425343
Niemitz, Emily L. ; DeBaun, Michael R. ; Fallon, Jonathan ; Murakami, Kazuhiro ; Kugoh, Hiroyuki ; Oshimura, Mitsuo ; Feinberg, Andrew P. / Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome. In: American Journal of Human Genetics. 2004 ; Vol. 75, No. 5. pp. 844-849.
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