PMID: 8606626Mar 1, 1996Paper

The alpha-thalassemia/mental retardation syndromes

Medicine
R J Gibbons, Douglas R Higgs

Abstract

The chromosome-16 and the X-chromosome forms of alpha-thalassemia--ATR-16 and ATR-X--exemplify 2 important causes of syndromal mental retardation. ATR-16 is a contiguous gene syndrome which arises from loss of DNA from the tip of chromosome 16p13.3 by truncation, interstitial deletion, or unbalanced translocation. It provided the first example of a chromosome translocation that could be detected by molecular analysis but not conventional cytogenetics. It also provided the first example of a telomeric truncation giving rise to a complex genetic syndrome. In contrast ATR-X appears to be due to mutations in a trans-acting factor that regulates gene expression. Mutations in transcription factors have recently been identified in a number of genetic diseases (for example, Denys-Drash syndrome, WT1 [19]; pituitary dwarfism, PIT1 [16]; Rubinstein-Taybi syndrome, CBP [20]. Not only is this mechanism proving to be an important cause of complex syndromes but it is providing new perspectives on certain developmental pathways. XH2 may not be a classical transcription factor but it is certainly involved in the regulation of gene expression, exerting its effects on several different genes. It seems likely that other mutations in this class of...Continue Reading

References

Oct 1, 1991·Journal of Medical Genetics·W M MolenaarE Van den Berg
Jul 1, 1968·Archives of Dermatology·T B FitzpatrickM H Greenberg
Sep 10, 1981·The New England Journal of Medicine·D J WeatherallD Bebbington
Jan 30, 1995·American Journal of Medical Genetics·W ReardonM Baraitser
Jan 30, 1995·American Journal of Medical Genetics·R J GibbonsH M Kingston
Nov 1, 1994·Human Molecular Genetics·C L StaytonE Boncinelli
Jun 1, 1994·Current Opinion in Cell Biology·M Carlson, B C Laurent
Dec 31, 1993·Cell·UNKNOWN European Chromosome 16 Tuberous Sclerosis Consortium

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Citations

Dec 19, 2001·The Journal of Experimental Zoology·H Ostrer
Aug 5, 2009·Clinical Reviews in Allergy & Immunology·Esteban Ballestar
Jun 1, 1997·Current Opinion in Genetics & Development·N A Ellis
Apr 15, 2008·Trends in Endocrinology and Metabolism : TEM·K McElreavey, M Fellous
Feb 19, 2002·Clinical Endocrinology·S Faisal Ahmed, Ieuan A Hughes
Aug 17, 2002·Public Health Nursing·JoAnne Banks-Wallace, Vicki Conn
Nov 9, 2005·Hematology·Nazeer A Alli
Dec 18, 2008·Applied Physiology, Nutrition, and Metabolism = Physiologie Appliquée, Nutrition Et Métabolisme·Craig A WilliamsHelen Carter
Sep 22, 2009·Applied Physiology, Nutrition, and Metabolism = Physiologie Appliquée, Nutrition Et Métabolisme·Keith TolfreyAndrew M Jones
Jun 16, 2011·BMC Developmental Biology·Kim HuyhnAndrew J Pask
Mar 19, 2014·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·A Regueiro GarcíaM Fernández Sanmartín
Mar 30, 2001·The Journal of Biological Chemistry·J M ZapataJ C Reed
Jun 29, 2000·Baillière's Clinical Haematology·L F Bernini, C L Harteveld

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