Inherited microdeletion in Xp21.3-22.1 involved in non-specific mental retardation

Clinical Genetics

Volumn 53, Issue 2, 1998, Pages 136-141

  Des Portes, Vincent ^a   Carrié, Alain ^a   Billuart, Pierre ^a   Kieffer, Virginie ^a   Bienvenu, Thierry ^a   Vinet, Marie Claude ^a   Beldjord, Cherif ^a   Kahn, Axel ^a   Ponsot, Gérard ^a   Chelly, Jamel ^a,b   Moutard, Marie Laure ^a  

^a HÔPITAL SAINT VINCENT DE PAUL   (France)

^b INSTITUT COCHIN   (France)

Author keywords

Inherited deletion; Mental retardation; MRX gene; Xp21.3 p22.1

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME DELETION; CHROMOSOME XP; CLINICAL FEATURE; FRAGILE X SYNDROME; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; HUMAN; HUMAN CELL; MALE; MENTAL DEFICIENCY; MOLECULAR GENETICS; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 18344398979     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb02661.x     Document Type: Article

References (24)

1. Herbst DS, Miller JR. Non-specific X-linked mental retardation II: the frequency in British Columbia. Am J Med Genet 1980: 7: 461-469.
2. Turner G, Webb T, Wake S, Robinson H. Prevalence of fragile X syndrome. Am J Med Genet 1996: 64: 196-197.
3. Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G. XLMR genes: update 1996. Am J Med Genet 1996a: 64: 147-157.
4. Gedeon AK, Donnelly AJ, Mulley JC, Kerr B, Turner G. How many X-Linked genes for non-specific mental retardation (MRX) are there? Am J Med Genet 1996: 64: 158-162.
5. Knight SLJ, Flannery AV, Hirst MC, Campbell L, Christodoulou Z, Phelps SR, Pointon J, Middleton-price HR, Barnicoat A, Pembrey ME, Oostra BA, Bobrow M, Davies KE. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 1993: 74: 127-134.
6. Gedeon AK, Meinanen M, Ades LC, Kaariainen H, Gecz J, Baker E, Sutherland GR, Mulley JC. Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE. Am J Hum Genet 1995: 4: 907-914.
7. Gecz J, Gedeon A, Sutherland G, Mulley J. Identification of the gene FMR2, associated with FRAXE mental retardation. Nat Genet 1996: 13: 105-108.
8. Billuart P, Vinet MC, des Portes V, Llense S, Richard L, Moutard ML, Recan D, Brüls T, Bienvenu T, Kahn A, Beldjord C, Chelly J. Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation. Hum Mol Genet 1996: 7: 977-979.
9. Fries MH, Lebo RV, Schonberg SA, Golabi M, Seltzer WK, Gitelman SE, Golbus MS. Mental retardation locus in Xp21 chromosome microdeletion. Am J Med Genet 1993: 46: 363-368.
10. Hu LJ, Blumenfeld-Heyberger S, Hanauer A, Weissenbach J, Mandel JL. Non-specific X-linked mental retardation: Linkage analysis in MRX2 and MRX4 families revisited. Am J Med Genet 1994: 51: 569-574.
11. Kerr B, Gedeon A, Mulley J, Turner G. Localization of localization of non-specific X-linked mental retardation genes. Am J Med Genet 1992: 43: 392-401.
12. Kozak L, Chiurazzi P, Genuardi M, Pomponi MG, Zollino M, Neri G. Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3. J Med Genet 1993: 30: 866-869.
13. Lubs HA, Schwartz C, Stevenson R, Arena J. Study of X-linked mental retardation (XLMR): summary of 61 families in the Miami/Greenwood study. Am J Med Genet 1996b: 64: 169-175.
14. Holinski-Feder E, Golla A, Rost I, Seidel H, Rittinger O, Meindl A. Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33). Am J Med Genet 1996: 64: 125-130.
15. Claes S, Gu X, Legius E, Lorenzetti E, Marynen P, Fryns JP, Cassiman JJ, Raeymaekers P. Linkage analysis in three families with non-specific X-linked mental retardation. Am J Med Genet 1996: 64: 137-146.
16. Schutz C, Ives EJ, Chalifoux M, MacLaren L, Farrell S, Robinson P, White B, Holden J. Regional localization of an X-linked mental retardation gene to Xp21.1-p22.13 (MRX38). Am J Med Genet 1996: 64: 89-96.
17. Raeymaekers P, Lin J, Gu X, Soekarman D, Cassiman JJ, Fryns JP, Marynen P. A form of non-specific mental retardation is probably caused by a microdeletion in a belgian family. Am J Med Genet 1996: 64: 16.
18. Sambrook J, Fritsch E, Maniatis TC. Molecular Cloning: A Laboratoty Manual. Cold Spring Harbor: Cold Spring Harbor Laboratory, 1982.
19. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J. The 1993-94 Genethon human genetic linkage map. Nat Genet 1994: 246: 246-339.
20. Ferrero GB, Franco B, Roth EJ, Firulli BA, Borsani G, Delmas-Mata J, Weissenbach J, Halley G, Schlessinger D, Chinault AC, Zoghbi HY, Nelson DL, Ballabio A. An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Hum Mol Genet 1995: 4: 1821-1827.
21. Cesselin F. French adaptation of the Termann Merrill test battery. Issy-les-Moulineaux, France: Editions scientifiques et psychologiques, 1995.
22. Touwen B. Clinics in Developmental Medicine No71: Examination of the child with minor neurological dysfunction, 2d edn. London: Spastics Interational Medical Publications, 1979.
23. 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, Oberle I, Mandel JL. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991: 325: 1673-1681.
24. Bakker E, Goor N, Wrogeman L, Kunkel LM, Fenton WA, Majoor-Krakauer D, Jahoda MGJ, Van Ommen GJB, Hofker MH, Mandel JL, Davies KE, Willard HF, Sandkuyl L, Essen AJV, Sachs ES, Pearson PL. Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet 1985: 8430: 655-658.