Detection of imprinting mutations in Angelman syndrome using a probe for exon α ofSNRPN
1996; Wiley; Volume: 63; Issue: 2 Linguagem: Inglês
10.1002/ajmg.1320630206
ISSN1096-8628
AutoresJoke Beuten, James S. Sutcliffe, Brett Casey, Arthur L. Beaudet, Raoul C. M. Hennekam, Patrick J. Willems,
Tópico(s)Prenatal Screening and Diagnostics
ResumoAmerican Journal of Medical GeneticsVolume 63, Issue 2 p. 414-415 Letter to the Editor Detection of imprinting mutations in Angelman syndrome using a probe for exon α of SNRPN Joke Beuten, Joke Beuten Department of Molecular and Human Genetics Department of Pathology Baylor College of Medicine and Howard Hughes Medical Institute Houston, TexasSearch for more papers by this authorJames S. Sutcliffe, James S. Sutcliffe Department of Molecular and Human Genetics Department of Pathology Baylor College of Medicine and Howard Hughes Medical Institute Houston, TexasSearch for more papers by this authorBrett M. Casey, Brett M. Casey Department of Molecular and Human Genetics Department of Pathology Baylor College of Medicine and Howard Hughes Medical Institute Houston, TexasSearch for more papers by this authorDr. Arthur L. Beaudet, Corresponding Author Dr. Arthur L. Beaudet Department of Molecular and Human Genetics Department of Pathology Baylor College of Medicine and Howard Hughes Medical Institute Houston, TexasDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030Search for more papers by this authorRaoul C. M. Hennekam, Raoul C. M. Hennekam Clinical Genetics Center Utrecht, The NetherlandsSearch for more papers by this authorPatrick J. Willems, Patrick J. Willems University of Antwerp, Antwerp, BelgiumSearch for more papers by this author Joke Beuten, Joke Beuten Department of Molecular and Human Genetics Department of Pathology Baylor College of Medicine and Howard Hughes Medical Institute Houston, TexasSearch for more papers by this authorJames S. Sutcliffe, James S. Sutcliffe Department of Molecular and Human Genetics Department of Pathology Baylor College of Medicine and Howard Hughes Medical Institute Houston, TexasSearch for more papers by this authorBrett M. Casey, Brett M. Casey Department of Molecular and Human Genetics Department of Pathology Baylor College of Medicine and Howard Hughes Medical Institute Houston, TexasSearch for more papers by this authorDr. Arthur L. Beaudet, Corresponding Author Dr. Arthur L. Beaudet Department of Molecular and Human Genetics Department of Pathology Baylor College of Medicine and Howard Hughes Medical Institute Houston, TexasDepartment of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030Search for more papers by this authorRaoul C. M. Hennekam, Raoul C. M. Hennekam Clinical Genetics Center Utrecht, The NetherlandsSearch for more papers by this authorPatrick J. Willems, Patrick J. Willems University of Antwerp, Antwerp, BelgiumSearch for more papers by this author First published: 17 May 1996 https://doi.org/10.1002/ajmg.1320630206Citations: 10AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References Beuten J, Hennekam RCM, Van Roy B, Mangelschots K, Sutcliffe JS, Halley DJJ, Hennekam FAM, Beaudet AL, Willems PJ, (1996): Angelman syndrome in an inbred family. Hum Genet 97: 294–298. Buiting K, Saitoh S, Gross S, Bittrich B, Schwartz S, Nicholls RD, Horsthemke B, (1995): Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 9: 395–400. Clayton-Smith J, (1993): Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals. Am J Med Genet 46: 12–15. Dittrich B, Robinson WP, Knoblauch H, Buiting K, Schmidt K, Gillessen-Kaesbach G, Horsthemke B, (1992): Molecular diagnosis of the Prader-Willi and Angelman syndrome by detection of the parent-of-origin specific DNA methylation in 15q11–13. Hum Genet 90: 313–315. Glenn CC, Nicholls RD, Robinson WP, Saitoh S, Niikawa N, Schinzel A, Horsthemke B, Driscoll DJ, (1993a): Modification of 15q11–q13 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet 2: 1377–1382. Glenn CC, Porter KK, Jong MTC, Nicholls RD, Driscoll DJ, (1993b): Functional imprinting and epigenetic modification of the human SNRPN gene. Hum Mol Genet 2: 2001–2005. Kuwano A, Mutirangura A, Dittrich B, Buiting K, Horsthemke B, Saitoh S, Niikawa N, Ledbetter SA, Greenberg F, Chinault AC, (1992): Molecular dissection if the Prader-Willi/Angelman syndrome region (15q11–13) by YAC cloning and FISH analysis. Hum Mol Genet 1: 417–425. Ledbetter Dh, Ballabio A, (1995): Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalance. In CR Scriver, AL Beaudet, WS Sly, D Valle, (eds): “ The Metabolic and Molecular Basis of Inherited Disease,” 7th ED. New York: McGraw-Hill, pp 811–839. Leff SE, Brannan CI, Reed ML, Özčelik T, Francke U, Copeland NG, Jenkins NA, (1992): Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region. Nat Genet 2: 259–264. Nakao M, Sutcliffe JS, Durtschi B, Mutirangura A, Ledbetter DH, Beaudet AL, (1994): Imprinting analysis of three genes in the Prader-Willi/Angelman region:SNRPN, E6-associated protein, and PAR-2 (D15S225E). Hum Mol Genet 3: 309–315. Nicholls RD, (1994): New insights reveal complex mechanisms involved in genomic imprinting. Am J Hum Genet 54: 733–740. Özčelik T, Leff S, Robinsom W, Donlon T, Lalande M, Sanjines E, Schinzel A, Francke U, (1992): Small nuclear in the Prader-Willi syndrome critical region. Nat Genet 2: 265–269. Reed ML, Leff SE, (1994): Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. Nat Genet 6: 163–167. Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL, (1994): Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet 8: 52–58. Wevrick R, Kerns JA, Francke U, (1994): Identification of a novel paternally expressed in the Prader-Willi syndrome region. Hum Mol Genet 3: 1877–1882. Citing Literature Volume63, Issue217 May 1996Pages 414-415 ReferencesRelatedInformation
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