Abstract
Balanced chromosomal abnormalities such as translocations and inversions have been identified in many genetic diseases. Cloning of the breakpoints involved in these abnormalities has led to the identification of the disease-related genes. Recent reports suggest the presence of a mental retardation locus at Xq11-12. We have identified a female patient with a balanced translocation t (X;12) (q11;q15) associated with mild mental retardation. We identified a yeast artificial chromosome spanning the X-chromosome breakpoint by using fluorescent in situ hybridization techniques. A cosmid library of this YAC has been constructed and the search for candidate genes is in progress.
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Verkerk AJM, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DPA, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang F, Eussen BE, Van Ommen GJB, Blonden LAL, Riggins GJ, Chastain JL, Kunst CB, Galijaard H, Caskey CT, Nelson DL, Oostra BA, Warren S: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991;65:905–914.
Knight SJI, Flannery AV, Hirst MC, Campbell I, 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 CpG islands in FRAXE mental retardation. Cell 1993;74:127–134.
Gecz J, Gedeon AK, Sutherland GR, Mulley JC: Identification of the gene FMR2, associated with FRAXE mental retardation. Nature Genet 1996;13:105–108.
Vits L, Van GC, Coucke P, Fransen E, De BK, Reyniers E, Korn B, Poustka A, Wilson G, Schrander-Stumpel C, Winter R, Schwartz C, Willems P: MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. Nature Genet 1994;7:408–413.
Gibbons RJ, Picketts DJ, Higgs DR: Syndro-mal mental retardation due to mutations in a regulator of gene expression. Hum Mol Genet 1995;4:1705–1709.
Suthers GK, Turner G, Mulley JC: A non-syn-dromal form of X-linked mental retardation (XLMR) is linked to DXS14. Am J Med Genet 1988;30:485–491.
Gedeon A, Donnelly A, Mulley J, Kerr B, Turner G: How many X-linked genes for nonspecific mental retardation (MRX) are there? Am J Med Genet 1996;64:158–162.
Trifiro M, Gottlied B, Pinsky L, Kaufman M, Prior L, Belsham DD, Wrogemann K, Brown CJ, Willard HF, Trapman J, Brinkmann AO, Chang C, Liao S, Sergovich F, Jung J: The 56/58 kDa androgen-binding protein in male genital skin fibroblasts with a deleted androgen receptor gene. Moll Cell Endocrinol 1991;75: 37–47.
Davis H, Hughes I, Patterson M: A possible locus for X-linked nonspecific mental retardation identified in two subjects with androgen insensitivity syndrome and mental retardation. Eur J Hum Genet 1996;4(S1):91.
Romana SP, Tachdjian G, Druart L, Cohen D, Berger R, Cherif D: A simple method for prenatal diagnosis of trisomy 21 on uncultured amniocytes. Eur J Hum Genet 1993; 1:245–251.
Cherif D, Romana S, Der-Sarkissian H, Jones C, Berger R: Chromosome painting in acute monocytic leukemia. Genes Chromosom Cancer 1993;6:107–112.
Evans GA, Lewis KA, Rothenberg BE: High efficiency vectors for cosmid microcloning and genomic analysis. Gene 1989;79:9–20.
Cherif D, Julier C, Delattre O, Derré J, Lathrop GM, Berger R: Simultaneous localization of cosmids and chromosome R-banding by fluorescence microscopy: Application to regional mapping of human chromosome 11. Proc Natl Acad Sci USA 1990;87:6639–6643.
Fletcher F, Huebner K, Shaffer LG, Fairweather ND, Monaco AP, Muller U, Druck T, Somoneaux DK, Chelly J, Belmont JW, Beckman MP, Lyman SD: Assignment of the gene (EPLG2) encoding a high-affinity binding protein for the receptor tyrosine kinase Elk to a 200-kilobasepair region in human chromosome Xq12. Genomics 1995;25:334–335.
Billuart P, Vinet MC, Des Portes V, Llense S, Richard L, Moutard ML, Recan D, Bruis 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;5:977–979.
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Bienvenu, T., Der-Sarkissian, H., Billuart, P. et al. Mapping of the X-Breakpoint Involved in a Balanced X;12 Translocation in a Female with Mild Mental Retardation. Eur J Hum Genet 5, 105–109 (1997). https://doi.org/10.1007/BF03405887
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DOI: https://doi.org/10.1007/BF03405887
