X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: Linkage study and neuropsychological data in a large family

American Journal of Medical Genetics

Volumn 83, Issue 5, 1999, Pages 411-418

  Gendrot, Chantal ^a,c   Ronce, Nathalie ^a   Raynaud, Martine ^a   Ayrault, Anne Dominique ^a   Dourlens, Juliette ^a   Castelnau, Pierre ^a   Muh, Jean Pierre ^a   Chelly, Jamel ^b   Moraine, Claude ^a  

^a CHU BRETONNEAU   (France)

^b CHU Cochin Port Royal ^*  (France)

^c Lab de Biochim et Biol Molec   (France)

Author keywords

Gene mapping; Linkage analysis; MRX; XLMR; Xq28

Indexed keywords

ARTICLE; CHROMOSOME 10Q; DNA POLYMORPHISM; FAMILY STUDY; FEMALE; GENE FREQUENCY; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; MALE; MENTAL DEFICIENCY; NEUROPSYCHOLOGY; PEDIGREE; PRIORITY JOURNAL;

CHROMOSOME MAPPING; FAMILY; FEMALE; HUMANS; KARYOTYPING; LINKAGE (GENETICS); LOD SCORE; MALE; MENTAL RETARDATION; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; X CHROMOSOME;

EID: 0033597287     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990423)83:5<411::AID-AJMG14>3.0.CO;2-B     Document Type: Article

References (46)

1. Armfield K, Schwartz CE, Lubs HA, Nelson R, Häne B, Schroer RJ, Arena F, Stevenson RE. 1999. An XLMR syndrome with short stature, small hands and feet, seizures, cleft palate and glaucoma is linked to Xq28. Am J Med Genet, in press.
2. Bienvenu T, des Portes V, Saint Martin A, Mc Donell N, Billuart P, Carrié A, Vinet MC, Couvert P, Toniolo D, Ropers HH, Moraine C, van Bokhoven H, Fryns JP, Kahn A, Beldjord C, Chelly J. 1998. Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor. Hum Mol Genet 71:1311-1315.
3. Bione S, Tamanini F, Maestrini E, Tribioli C, Poustka A, Torri G, Rivella S, Toniolo D. 1993. Transcriptional organization of a 450-kb region of the human X chromosome in Xq28. Proc Natl Acad Sci USA 90:10977-10981.
4. Briault S, Villard L, Odent S, Lucas J, Ronce N, Toutain A, Guichat A, le Merrer M, Turleau C, Munnich A, Fontes M, Moraine CI. 1996. Physical mapping of the breakpoints of an X chromosome paracentric inversion inv(X) which cosegregates with the FG syndrome in a French family. Am J Med Genet 64:20.
5. Burgermeister BB, Hollander Blum L, Lorge I. 1965. Echelle de Maturité Mentale de Columbia. Paris: Les Editions du Centre de Psychologie Appliquée.
6. D'Adamo P, Menegon A, Lo Nigro C, Grasso M, Gulisano M, Tamarini F, Bienvenu T, Gedeon AK, Oostra B, Wu SK, Tandon A, Valtorta F, Balch WE, Chelly J, Toniolo D. 1998. Mutations in GDI1 are responsible for X-linked mental retardation. Nat Genet 19:134-139.
7. des Portes V, Billuart P, Carrié A, Bachner L, Bienvenu T, Vinet MC, Beldjord C, Ponsot G, Kahn A, Boué J, Chelly J. 1997. A gene for dominant nonspecific X-linked mental retardation is located in Xq28. Am J Hum Genet 60:903-909.
8. Gauthier L, Dehaut F, Joanette Y. 1989. The Bells test: A quantitative and qualitative test for visual neglect. Int J Clin Neuropsychol 11:49-54.
9. Gedeon A, Kerr B, Mulley J, Turner G. 1991. Localisation of the MRX3 gene for non-specific X linked mental retardation. J Med Genet 28:372-377.
10. Gedeon AK, Donnelly AJ, Mulley JC, Kerr B, Turner G. 1996. How many X-linked genes for non-specific mental retardation (MRX) are there? Am J Med Genet 64:158-162.
11. Glass IA. 1991. X-linked mental retardation. J Med Genet 28:361-371.
12. Gregg RG, Metzenberg AB, Hogan K, Sekhon G, Laxova R. 1991. Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27.3-qter. Genomics 9:701-706.
13. Hamel BJC, Kremer H, Wesby-van Swaay E, van del Helm B, Smits APT, Oostra BA, Ropers HH, Mariman ECM. 1996. A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28. Am J Med Genet 64:131-133.
14. Hane B, Schroer RJ, Arena JF, Lubs HA, Schwartz CE, Stevenson RE. 1996. Nonsyndromic X-linked mental retardation: Review and mapping of MRX29 to Xp21. Clin Genet 50:176-183.
15. Herbst DS, Miller JR. 1980. Nonspecific X-linked mental retardation II: the frequency in British Columbia. Am J Med Genet 7:461-469.
16. Holinski-Feder E, Golla A, Rost I, Seidel H, Rittinger O, Meindl A. 1996. Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33). Am J Med Genet 64:125-130.
17. Jouet M, Rosenthal A, Armstrong G, MaxFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S. 1994. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet 7:402-407.
18. Kenwrick S, Levinson B, Taylor S, Shapiro A and Gitschier J. 1992. Isolation and sequence of two genes associated with a CpG island 5′ of the factor VIII gene. Hum Mol Genet 1:179-186.
19. Kerr B, Turner G, Mulley J, Gedeon A, Partington M. 1991. Non-specific X-linked mental retardation. J Med Genet 28:378-382.
20. Knight SJL, Flannery AV, Hirst MC, Campbel L, Christodoulo Z, Phelps SR, Pointon J, Middleton-Price HR, Barnicoat A, Pembrey ME, Holland J, Oostra BA, Bobrow M, Davies KE. 1993. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74:127-134.
21. Lahn BT, Ma N, Breg WR, Stratton R, Surti U, Page DC. 1994. Xq-Yq interchanges resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq-karyotype. Nat Genet 8:243-250.
22. Landy SJ, Donnai D. 1993. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 30:53-59.
23. Lathrop GM, Lalouel JM, Julier C, Ott J. 1985. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37:482-498.
24. Lindsay S, Splitt M, Edney S, Berney TP, Knight SJL, Davies KE, O'Brien O, Gale M, Burn J. 1996. PPM-X: A new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28. Am J Hum Genet 58:1120-1126.
25. Lubs H, Abidi F, Bier JB, Abuelo D, Ouzts L, Voeller K, Stevenson R, Schwartz C, Arena F. 1999a. An XLMR characterized by multiple respiratory infections, hypertelorism, global CNS deterioration and early death localizes to Xq28. Am J Med Genet, in press.
26. Lubs HA, Chiurazzi P, Arena F, Schwartz C, Tranebjaerg L, Neri G. 1996. XLMR genes: update 1996. Am J Med Genet 64:147-157.
27. Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G. 1999b: XLMR genes: update 1998. Am J Med Genet, 83:000-000.
28. Maestrini E, Tamanini F, Kioschis P, Gimbo E, Marinelli P, Tribioli C, D'Urso M, Palmieri G, Poutska A, Tiolo D. 1992. An archipelago of CpG islands in Xq28: identification and fine mapping of 20 new CpG islands of the human X chromosome. Hum Mol Genet 4:275-280.
29. Mazaux JM, Orgogozo JM. 1985. Echelle devaluation de l'Aphasie. Editions Scientifiques et Psychologiques. France: Issy-Les-Moulineaux.
30. Morton NE, Rao DC, Lang-Brown H, Mac Leon CJ, Bart RC, Lew R. 1977. Colchester revisited: a genetic study of mental defect. J Med Genet 14:1-9.
31. Neri G, Chiurazzi P, Arena JF, Lubs HA. 1994. XLMR genes: update 1994. Am J Med Genet 51:542-549.
32. Nordstrom AM, Pentinnen M, von Koskull H. 1992. Linkage to Xq28 in a family with nonspecific X-linked mental retardation. Hum Genet 90: 263-266.
33. Pai GS, Hane B, Joseph M, Nelson R, Hammond LS, Arena JF, Lubs HA, Stevenson RE, Schwartz CE. 1997. A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28. J Med Genet 34:529-534.
34. Palmieri G, Romano G, Ciccodicola A, Casamassimi A, Campanile C, Esposito T, Cappa V, Lania A, Johnson S, Reinbold R, Poustka AM, Schlessinger D, D'Urso M. 1994. YAC contig organization and CpG island analysis in Xq28. Genomics 24:149-158.
35. Rivella S, Tamanini F, Bione S, Mancini M, Herman G, Chatterjee A, Maestrini E, Toniolo D. 1995. A comparative transcriptional map of a region of 250Kb on the human and mouse X chromosome between the G6PD and the FLN1 genes. Genomics 28:377-382.
36. Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boue J, Tommerup N, Van Der Hagen C, Delozier-Blanchet C, Croquette MF, Gilgenkrantz S, Jalbert P, Voelckel MA, Oberlé I, Mandel JL. 1991. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 325:1673-1681.
37. Saugier-Veber P, Gibbons RJ, Toutain A, Piussan C, Moraine C, Munnich A, Lyonnet S. 1995. Lumping Juberg-Marsidi syndrome and X-linked α-thalassemia/mental retardation syndrome? Am J Med Genet 55:300-301.
38. Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O. 1994. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus on chromosome Xq21-q22. Nat Genet 6:257-262.
39. Schmidt M. 1996. Mapping of the loci for mental retardation syndromes in the distal Xq. Am J Med Genet 64:163-165.
40. Schwartz CE, Arena JF, Abidi F, Häne B, Nelson R, Tackels D, Biar J, Lubs HA, Schroer RJ, Pai GS, Armfield K, Stevenson RE. 1997. Four XLMR entities mapping to Xq28: Eighth International Workshop on Fragile and X-linked mental retardation. Picton. Canada. August 1997.
41. Sefiani A, Abel L, Heuertz S, Sinnet D, Lavergne L, Labuda D, Hors-Cayla MC. 1989. The gene for incontinentia pigmenti is assigned to Xq28. Genomics 4:427-429.
42. Sparrow S, Balla D, Cicchetti D. 1984. Vineland Adaptive Behavior Scales. Circle Pines, Minnesota: American Guidance Service.
43. Villard L, Toutain A, Lossi AM, Gecz J, Houdayer CL, Moraine CL, Fontes M. 1996a. Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without -thalassemia. Am J Hum Genet 58:499-505.
44. Villard L, Toutain A, Saugier-Veber P, Lacombe D, Colleaux L, Moraine C, Munnich A, Lyonnet S, Fontes M. 1996b. Cloning of the XNP gene involved in the ATRX and related MR syndromes. Eur J Hum Genet, 4[Suppl]:15.
45. 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. 1981. Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? N Engl J Med 305:607-612.
46. Wechsler D. 1989. Echelle d'Intelligence de Wechsler pour Adultes. Révisée (WAIS.R). Paris: Les Editions du Centre de Psychologie Appliquée.