E-ISSN 2149-2018
 

Case Report 


Tumor suppressor candidate 3 gene deletion correlates with mental retardation in a child

Anne Weissenstein, Gloria Villalon, Elisabeth Luchter, Stefan Bittmann.

Abstract
We present the rare case of a 5 year-old boy with developmental delay and microcephalus. Deletion of tumor suppressor candidate 3 gene (TUSC 3) on chromosome 8pwas found. It was localized in the gene region 8p22 with loss of 51,5 kb. The same deletion was found in the 31-years-old father, the mother was negative for this entity. The function of TUSC 3 gene is yet not completely known and this is one the first published cases in world literature.

Key words: Child, microcephaly, retardation, tumor suppressor candidate 3


 
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REFERENCES
1.MacGrogan D, Levy A, Bova GS, Isaacs WB, Bookstein R. Structure and methylation-associated silencing of a gene within a homozygously deleted region of human chromosome band 8p22. Genomics 1996;35:55-65. [DOI via Crossref]    [Pubmed]   
2. Bova GS, MacGrogan D, Levy A, Pin SS, Bookstein R, Isaacs WB. Physical mapping of chromosome 8p22 markers and their homozygous deletion in a metastatic prostate cancer. Genomics 1996;35:46-54. [DOI via Crossref]    [Pubmed]   
3. Pils D, Horak P, Gleiss A, Sax C, Fabjani G, Moebus VJ, et al. Five genes from chromosomal band 8p22 are significantly down-regulated in ovarian carcinoma: N33 and EFA6R have a potential impact on overall survival. Cancer 2005;104:2417-29. [DOI via Crossref]    [Pubmed]   
4. Zhou H, Clapham DE. Mammalian MagT1 and TUSC3 are required for cellular magnesium uptake and vertebrate embryonic development. Proc Natl Acad Sci U S A 2009;106:15750-5. [DOI via Crossref]    [Pubmed]    [PMC Free Fulltext]   
5. Molinari F, Foulquier F, Tarpey PS, Morelle W, Boissel S, Teague J, et al. Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet 2008;82:1150-7. [DOI via Crossref]    [Pubmed]    [PMC Free Fulltext]   

How to Cite this Article
Pubmed Style

Anne Weissenstein, Gloria Villalon, Elisabeth Luchter, Stefan Bittmann. Tumor suppressor candidate 3 gene deletion correlates with mental retardation in a child. Appl Med Res. 2015; 1(1): 35-36. doi:10.5455/amr.20150131071444


Web Style

Anne Weissenstein, Gloria Villalon, Elisabeth Luchter, Stefan Bittmann. Tumor suppressor candidate 3 gene deletion correlates with mental retardation in a child. http://www.ejmamr.com/?mno=176486 [Access: November 18, 2019]. doi:10.5455/amr.20150131071444


AMA (American Medical Association) Style

Anne Weissenstein, Gloria Villalon, Elisabeth Luchter, Stefan Bittmann. Tumor suppressor candidate 3 gene deletion correlates with mental retardation in a child. Appl Med Res. 2015; 1(1): 35-36. doi:10.5455/amr.20150131071444



Vancouver/ICMJE Style

Anne Weissenstein, Gloria Villalon, Elisabeth Luchter, Stefan Bittmann. Tumor suppressor candidate 3 gene deletion correlates with mental retardation in a child. Appl Med Res. (2015), [cited November 18, 2019]; 1(1): 35-36. doi:10.5455/amr.20150131071444



Harvard Style

Anne Weissenstein, Gloria Villalon, Elisabeth Luchter, Stefan Bittmann (2015) Tumor suppressor candidate 3 gene deletion correlates with mental retardation in a child. Appl Med Res, 1 (1), 35-36. doi:10.5455/amr.20150131071444



Turabian Style

Anne Weissenstein, Gloria Villalon, Elisabeth Luchter, Stefan Bittmann. 2015. Tumor suppressor candidate 3 gene deletion correlates with mental retardation in a child. Applied Medical Research, 1 (1), 35-36. doi:10.5455/amr.20150131071444



Chicago Style

Anne Weissenstein, Gloria Villalon, Elisabeth Luchter, Stefan Bittmann. "Tumor suppressor candidate 3 gene deletion correlates with mental retardation in a child." Applied Medical Research 1 (2015), 35-36. doi:10.5455/amr.20150131071444



MLA (The Modern Language Association) Style

Anne Weissenstein, Gloria Villalon, Elisabeth Luchter, Stefan Bittmann. "Tumor suppressor candidate 3 gene deletion correlates with mental retardation in a child." Applied Medical Research 1.1 (2015), 35-36. Print. doi:10.5455/amr.20150131071444



APA (American Psychological Association) Style

Anne Weissenstein, Gloria Villalon, Elisabeth Luchter, Stefan Bittmann (2015) Tumor suppressor candidate 3 gene deletion correlates with mental retardation in a child. Applied Medical Research, 1 (1), 35-36. doi:10.5455/amr.20150131071444





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