The α-thalassemia/mental retardation syndromes

Medicine

Volumn 75, Issue 2, 1996, Pages 45-52

  Gibbons, Richard J ^a   Higgs, Douglas R ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; TRANSCRIPTION FACTOR;

ALPHA THALASSEMIA; CHROMOSOMAL LOCALIZATION; CHROMOSOME 16P; CHROMOSOME XP; GENE EXPRESSION; GENE MUTATION; GENETIC DISORDER; HUMAN; MENTAL RETARDATION MALFORMATION SYNDROME; MOLECULAR GENETICS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; REVIEW; X CHROMOSOME LINKAGE;

ALPHA-THALASSEMIA; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; GENE DELETION; HUMANS; MENTAL RETARDATION; MUTATION; PEDIGREE; SEX CHROMOSOME ABERRATIONS; SYNDROME; TRANSCRIPTION, GENETIC; TRANSLOCATION, GENETIC; X CHROMOSOME;

EID: 0029968719     PISSN: 00257974     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005792-199603000-00001     Document Type: Review

References (32)

1. Carlson M, Laurent BC. The SNF/SWI family of global transcriptional activators. Curr Opinion Cell Biol 6: 396-402, 1994.
2. Donnai D, Clayton-Smith J, Gibbons RJ, Higgs DR. α Thalassaemia/mental retardation syndrome (non-deletion type): Report of a family supporting X linked inheritance. J Med Genet 28: 734-37, 1991.
3. European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75: 1305-15, 1993.
4. European Polycystic Kidney Disease Consortium. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. Cell 77: 881-94, 1994.
5. Fitzpatrick TB, Szabo G, Hori Y, Simone AA, Reed WB, Greenberg MH. White leaf-shaped macules. Arch Dermatol 98: 1-6, 1968.
6. Flint J, Wilkie AOM, Buckle VJ, Winter RM, Holland AJ, McDermid HE. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nature Genet 9: 132-40, 1995.
7. Gecz J, Pollard H, Gonzalez G, Villard L, Stayton C, Millasseau P, Khrestchatisky M, Fontes M. Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3. Hum Mol Genet 3: 39-44, 1994.
8. Gecz J, Villard L, Lossi AM, Millasseau P, Djabali M, Fontes M. Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: Identification of three new transcripts. Hum Mol Genet 2: 1389-96, 1993.
9. Gibbons RJ, Brueton L, Buckle VJ, Burn J, Clayton-Smith J, Davison BCC, Gardner RJM, Homfray T, Kearney L, Kingston HM, Newbury-Ecob R, Porteous MEP, Wilkie AOM, Higgs DR. The clinical and hematological features of the X-linked α thalassemia/mental retardation syndrome (ATR-X). Am J Med Genet 55: 288-99, 1995.
10. Gibbons RJ, Picketts DJ, Villard L, Higgs DR. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome). Cell 80: 837-45, 1995.
11. Gibbons RJ, Suthers GK, Wilkie AOM, Buckle VJ, Higgs DR. X-linked α thalassemia/mental retardation (ATR-X) syndrome: Localization to Xq12-21.31 by X-inactivation and linkage analysis. Am J Hum Genet 51: 1136-49, 1992.
12. Higgs DR, Vickers MA, Wilkie AOM, Pretorius I-M, Jarman AP, Weatherall DJ. A review of the molecular genetics of the human α-globin gene cluster. Blood 73: 1081-1104, 1989.
13. n in the α-thalassemia/mental retardation syndrome (ATR-16). Am J Hum Genet 52: 668-76, 1993.
14. Lamb J, Wilkie AOM, Harris PC, Buckle VJ, Lindenbaum RH, Barton NJ, Reeders ST, Weatherall DJ, Higgs DR. Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease. Lancet 2: 819-24, 1989.
15. Lefort G, Taib J, Toutain A, Houdayer C, Moraine C, Humeau C, Sarda P. X-linked α-thalassemia/mental retardation (ATR-X) syndrome. Report of three male patients in a large French family. Ann Genet 36: 200-5, 1993.
16. Li S, Crenshaw EB III, Rawson EJ, Simmons DM, Swanson LW, Rosenfeld MG. Dwarf locus mutants lacking three pituitary cell types results from mutations in the POU-domain gene pit-1. Nature 347: 528-33, 1990.
17. Lubs HA Jr. A marker X chromosome. Am J Hum Genet 21: 231-44, 1969.
18. 17a. McKusick VA. Mendelian inheritance in man: A catalog of human genes and genetic disorders. 11th ed. Baltimore: Johns Hopkins University Press, 1994.
19. McPherson EW, Clemens MM, Gibbons RJ, Higgs DR. X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: A new kindred with severe genital anomalies and mild hematologic expression. Am J Med Genet 55: 302-6, 1995.
20. Pelletier J, Bruening W, Kashtan CE, Mauer SM, Manivel JC, Striegel JE, Houghton DC, Junien C, Habib R, Fouser L, Fine RN, Silverman BL, Haber DA, Housman D. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 67: 437-47, 1991.
21. Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RCM, Masuno M, Tommerup N, van Ommen G-JB, Goodman RH, Peters DJM, Breuning MH. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 376: 348-51, 1995.
22. Reardon W, Gibbons RJ, Winter RM, Baraitser M. Sex reversal in the α thalassemia/mental retardation (ATR-X) syndrome: A further case. Am J Med Genet 55: 285-87, 1995.
23. Seegmiller JE, Rosenbloom FM, Kelley WN. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science 155: 1682-84, 1967.
24. Stayton CL, Dabovic B, Gulisano M, Gecz J, Broccoli V, Giovanazzi S, Bossolasco M, Monaco L, Rastan S, Boncinelli E, Bianchi ME, Consalez GG. Cloning and characterisation of a new human Xq13 gene, encoding a putative helicase. Hum Mol Genet 3: 1957-64, 1994.
25. Sutcliffe MJ, Mueller OT, Gallardo LA, Papanhausen PR, Tedesco TA. Maternal isodisomy 16 in a normal 46,XX following trisomic conception [abstract]. Am J Hum Genet 53: 1464, 1993.
26. Vogel F, Motulsky AG. Human Genetics. Problems and approaches. 2nd ed. Berlin: Springer-Verlag, 1986.
27. Vyas P, Vickers MA, Simmons DL, Ayyub H, Craddock CF, Higgs DR. Cis-acting sequences regulating expression of the human α globin cluster lie within constitutively open chromatin. Cell 69: 781-93, 1992.
28. Weatherall DJ, Higgs DR, Bunch C, Old JM, Hunt DM, Pressley L, Clegg JB, Bethlenfalvay NC, Sjolin S, Koler RD, Magenis E, Francis JL, Bebbington D. Hemoglobin H disease and mental retardation. A new syndrome or a remarkable coincidence? N Engl J Med 305: 607-12, 1981.
29. Wilkie AOM. The α thalassaemia/mental retardation syndromes: Model systems for studying the genetic contribution to mental handicap. DM Thesis, University of Oxford, 1991. (available on request)
30. Wilkie AOM, Buckle VJ, Harris PC, Lamb J, Barton NJ, Reeders ST, Lindenbaum RH, Nicholls RD, Barrow M, Bethlenfalvay NC, Hutz MH, Tolmie JL, Weatherall DJ, Higgs DR. Clinical features and molecular analysis of the α thalassemia/mental retardation syndromes. I. Cases due to deletions involving chromosome band 16p13.3. Am J Hum Genet 46: 1112-26, 1990.
31. Wilkie AOM, Pembrey ME, Gibbons RJ, Higgs DR, Porteous MEM, Burn J, Winter RM. The non-deletion type of α thalassaemia/mental retardation: A recognisable dysmorphic syndrome with X-linked inheritance. J Med Genet 28: 724, 1991.
32. Wilkie AOM, Zeitlin HC, Lindenbaum RH, Buckle VJ, Fischel-Ghodsian N, Chui DHK, Gardner-Medwin D, MacGillivray MH, Weatherall DJ, Higgs DR. Clinical features and molecular analysis of the α thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the α globin complex. Am J Hum Genet 46: 1127-40, 1990.