X-linked mental retardation syndrome with characteristic 'coarse' facial appearance, brachydactyly, and short stature maps to proximal Xq

American Journal of Medical Genetics

Volumn 85, Issue 3, 1999, Pages 230-235

  Carpenter, Nancy J ^a   Qu, Yong ^a   Curtis, Mary ^b   Patil, Shivanand R ^c  

^a HA Chapman Institute of Medical Genetics   (United States)

^b UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^c UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

Author keywords

Brachydactyly; Coarse facies; Linkage analysis; Skewed X inactivation; X linked mental retardation

Indexed keywords

ALPHA THALASSEMIA; ARTICLE; BRACHYDACTYLY; CHROMOSOMAL LOCALIZATION; CHROMOSOME XQ; CLINICAL ARTICLE; FACE MALFORMATION; FEMALE; GENE INACTIVATION; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GENETIC RECOMBINATION; HUMAN; INTELLIGENCE; MALE; MENTAL DEFICIENCY; PEDIGREE ANALYSIS; PHENOTYPE; PHYSICAL DEVELOPMENT; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SHORT STATURE; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; CHROMOSOME MAPPING; DNA; FACE; FAMILY HEALTH; FEMALE; GROWTH DISORDERS; HAND DEFORMITIES, CONGENITAL; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MENTAL RETARDATION; MICROSATELLITE REPEATS; PEDIGREE; SYNDROME; X CHROMOSOME;

EID: 0033041311     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990730)85:3<230::AID-AJMG9>3.0.CO;2-O     Document Type: Article

References (28)

1. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. 1992. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-1239.
2. Carpenter NJ, Waziri M, Liston J, Patil SR. 1988. Studies on X-linked mental retardation: evidence for a gene in the region Xq11-q22. Am J Hum Genet 43:A139.
3. Cottingham RW, Idury RM, Schaffer AA. 1993. Faster sequential genetic linkage computations. Am J Hum Genet 53:252-263.
4. Gecz J, Villard L, Lossi AM, Millasseau P, Djabali M, Fontes M. 1993. Physical and transcriptional mapping of DXS56-PGK1 1 Mb region: identification of three new transcripts. Hum Mol Genet 2:1389-1396.
5. Gecz J, Pollard H, Gonzalez G, Villard L, Stayton C, Millasseau P, Khrestchatisky M, Fontes M. 1994. Cloning and expression of the murine homolog of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3. Hum Mol Genet 3:39-44.
6. Gedeon A, Haan E, Mulley J. 1996. Gene localization for Sutherland-Haan syndrome (SHS:MIM 309470) Am J Med Genet 64:78-79.
7. Généthon Web site: http://genethon.fr
8. Gibbons RJ, Suthers GK, Wilkie AOM, Buckle VJ, Higgs DR. 1992. X-linked -thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-21.31 by X-inactivation and linkage analysis. Am J Hum Genet 51:1136-1149.
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. 1995a. Clinical and hematologic aspects of the X-linked α-thalassemia/mental retardation syndrome (ATR-X). Am J Med Genet 55:288-299.
10. Gibbons RJ, Picketts DJ, Villard L, Higgs DR. 1995b. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome). Cell 80:837-845.
11. Herbst DS, Miller JR. 1980. Non-specific mental retardation: II. Frequency in British Columbia. Am J Med Genet 7:461-469.
12. Jin H, May M, Tranebjaerg L, Kendall E, Fontan G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D. 1996. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Nat Genet 14:177-180.
13. Lathrop GM, Lalouel J-M. 1984. Easy calculations for lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465.
14. Lubs H, Chiurazzi P, Arena J, Schwartz C, Tranebjaerg L, Neri G. 1999. XLMR genes: update 1998. Am J Med Genet 83:237-247.
15. Miles JH, Carpenter NJ. 1991. Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31. Am J Med Genet 38:215-223.
16. Nagarja R, Mac Millan S, Kere J, Jones C, Griffin S, Schmatz M, Terrell J, Shomaker M, Jermak C, Hott C, Masisi M, Mumm S, Srivastava AN, Pilia G, Teatherstone T, Massarella R, Kesterson S, McCauley B, Railey B, Burough F, Nowotny V, D'Urso M, States D, Brownstein B, Schlessinger D. 1997. X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content. Genome Res 7: 210-222.
17. Pasteris NG, Cadle A, Logie LJ, Porteous ME, Schwartz CE, Stevenson RE, Glover TW, Wilroy RS, Gorski JL. 1994. Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. Cell 79:669-678.
18. Sangier-Veber P, Abadie V, Moncla A, Mathieu M, Piussan C, Turleau C, Mattei J-F, Munnich A, Lyonnet S. 1993. The Juberg-Marsidi syndrome maps to the proximal longarm of the X chromosome (Xq12-q21). Am J Hum Genet 52:1040-1045.
19. Schaffer AA, Gupta SK, Shriram K, Cottingham RW. 1994. Avoiding recomputation in linkage analysis. Hum Hered 44:225-237.
20. Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO, Stevenson RE. 1990. Allan-Herndon syndrome: II. Linkage to DNA markers in Xq21. Am J Hum Genet 47:454-458.
21. Stevenson RE, Hane B, Arena JF, May M, Lawrence L, Lubs HA, Schwartz CE. 1997. Arch fingertips, hypotonia, and areflexia associated wtih X-linked mental retardation. J Med Genet 34:465-469.
22. Stevenson RE, Arena JF, Ouzts E, Gibson A, Shokeir MH, Vnencak-Jones C, Lubs HA, May M, Schwartz CE. 1998. Renpenning syndrome maps to Xp11. Am J Hum Genet 62:1092-1101.
23. Villard L, Gecz J, Mattei JF, Fontes M, Saugier-Veber P, Munnich A, Lyonnet S. 1996a. XNP mutation in a large family with Juberg-Marsidi syndrome. Nat Genet 12:359-360.
24. Villard L, Toutain A, Lossi A-M, Gecz J, Houdayer C, Moraine C, Fontes M. 1996b. Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without α-thalassemia. Am J Hum Genet 58:499-505.
25. Weatherall DJ, Higgs DR, Bunch C, Old JM, Hunt DM, Pressley L, Clegg JB, Bethelfalvay NC, Sjolin S, Koler RD, Magenis E, Francis JL, Bebbington D. 1981. Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? N Engl J Med 305:607-612.
26. Wieacker P, Wolff G, Wienker TF. 1987. Close linkage of the Wieacker-Wolff syndrome to the DNA segment DXYS1 in proximal Xq. Am J Med Genet 28:245-253.
27. Wilkie AOM, Zeitlin HC, Lindenbaum RH, Buckle VJ, Fischel-Ghodsian N, Chui DHK, Gardner-Medwin D, MacGillivray MH, Weatherall DJ, Higgs DR. 1990. 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 46:1127-1140.
28. Wilson M, Mulley J, Gedeon A, Robinson H, Turner G. 1991. New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255. Am J Med Genet 40:406-413.