Rare variants in the promoter of the fragile X syndrome gene (FMR1)

Molecular and Cellular Probes

Volumn 14, Issue 2, 2000, Pages 115-119

  Mila M ^a   Castellvi Bel S ^a   Sanchez A ^a   Barcelo A ^a   Badenas, C ^a   Mallolas, J ^a   Estivill, X ^a  

^a HOSPITAL CLÍNIC   (Spain)

Author keywords

DNA variant; FMR1 gene; Fragile X syndrome; Promoter region

Indexed keywords

RESTRICTION ENDONUCLEASE;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA DETERMINATION; FRAGILE X SYNDROME; GENE SEQUENCE; HUMAN; HUMAN CELL; MALE; MENTAL DEFICIENCY; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SOUTHERN BLOTTING; TRINUCLEOTIDE REPEAT;

EID: 0342803598     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1006/mcpr.2000.0293     Document Type: Article

References (20)

1. Turner G., Webb T., Robson H. Prevalence of fragile X syndrome. American Journal of Human Genetics. 64:1996;196-197.
2. Verkerk A. J. M. H., Pieretti M., Sutcliffe J. S., Fu Y. H., Kuhl P. A., Pizutti A. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 65:1991;905-914.
3. Pieretti M., Zhang F., Fu Y. H., Warren S. T., Oostra B. A., Caskey C. T. Absence of expression of the FMR1 gene in fragile X syndrome. Cell. 66:1991;817-822.
4. Devys D., Lutz Y., Rouyer N., Bellocq J. P., Mandel J. L. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nature Genetics. 4:1993;335-340.
5. Warren S. T., Nelson D. L. Advances in molecular analysis of fragile X syndrome. JAMA. 16:1994;536-542.
6. Milà M., Kruyer H., Glover G., Sánchez A., Carbonell P., Castellví-Bel S., Volpini V., Rosell J., Gabarrón J., López I., Villa M., Ballesta F., Estivill X. Molecular analysis of the (CGG)n expansion in the FMR1 gene in 59 Spanish fragile X syndrome families. Human Genetics. 94:1994;935-940.
7. Milà M., Sánchez A., Badenas C., Brun C., Jiménez D., Villa M. P. Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation. Human Genetics. 100:1997;503-507.
8. Sherman S. The high prevalence of fragile X premutation carrier females: is this frequency unique to the French Canadian population? American Journal of Human Genetics. 57:1995;991-993.
9. De Boulle K., Verkerk A. J. M. H., Reyniers E., Vits L., Hendrickx J., van Roy B., van den Bos F., de Graaff E., Oostra B. A., Willems P. J. A point mutation in the FMR1 gene associated with fragile X mental retardation. Nature Genetics. 3:1993;31-35.
10. Lugenbeel K., Peier A. M., Carson N. L., Chudley A. E., Nelson D. L. Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. Nature Genetics. 10:1995;483-485.
11. Wang Y. C., Lin M. L., Lin S. J., Li Y. C., Li S. Y. Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome. Human Mutation. 10:1997;393-399.
12. Vincent J. B., Gurling H. M. Point mutation in intron 10 of FMR1 is unlikely to be a cause of fragile X syndrome. Human Mutation. 12:1998;431-432.
13. Hagerman R., Amiri K., Conister A. Fragile X checklist. American Journal of Human Genetics. 38:1991;283-287.
14. Oberlé I., Rousseau F., Heitz D., Kretz C., Devys D., Hanauer A., Boue J., Bertheas M. F., Mandel J. L. Instability of a 550 base pair DNA segment and abnormal methylation in fragile X syndrome. ÍScience. 252:1991;1098-1102.
15. nmutation: two families with discordant MZ twins. American Journal of Human Genetics. 54:1994;437-442.
16. Hansen R. S., Gartler S. M., Scott C. R., Che S. H., Laird C. D. Methylation analysis of CGG sites in the CpG island of the human FMR1 gene. Human Molecular Genetics. 1:1992;571-578.
17. Harlow, E. Lane, D. 1988, Immunoblotting. In Antibodies: A Laboratory Manual, Pp. 471, 510, New York: Cold Spring Harbor Laboratory Press.
18. Willemsen R., Mohkamsing S., De Vries B., Devys D., van den Ouweland A., Mandel J. L. Rapid antibody test for fragile X syndrome. Lancet. 345:1995;1147-1148.
19. Sakai T., Ohtani N., McGee T. L., Robbins P. D., Dryja T. P. Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene. Nature. 353:1991;83-86.
20. Cooper, D. N. Krawczak, M. 1993, Regulatory mutations, In Human Gene Mutation, Pp. 261, 84, Oxford: BIOS Scientific Publishers Ltd.