A fragile X male with a broad smear on southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene

American Journal of Medical Genetics

Volumn 64, Issue 2, 1996, Pages 278-282

  Lachiewicz, A M ^a   Spiridigliozzi, G A ^a   McConkie Rosell, A ^a   Burgess, D ^a   Feng, Y ^b   Warren, S T ^b   Tarleton, J ^c  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c GREENWOOD GENETIC CENTER   (United States)

Author keywords

FMR 1 protein; fragile X syndrome; high functioning; mosaic; variant mutation pattern

Indexed keywords

ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA METHYLATION; FRAGILE X SYNDROME; GENE MUTATION; HETEROZYGOTE; HUMAN; INTELLIGENCE QUOTIENT; MACROCEPHALY; MACROORCHIDISM; MALE; MENTAL DEFICIENCY; MOSAICISM; PRIORITY JOURNAL; SOUTHERN BLOTTING;

BLOTTING, SOUTHERN; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA; DNA METHYLATION; FEMALE; FRAGILE X SYNDROME; HETEROZYGOTE DETECTION; HUMANS; MALE; MENTAL RETARDATION; MIDDLE AGED; PEDIGREE; RESTRICTION MAPPING; TRINUCLEOTIDE REPEATS;

EID: 0029984825     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<278::AID-AJMG9>3.0.CO;2-Q     Document Type: Article

References (21)

1. DeVries BBA, Weigers AM, de Graaff E, Verkerk AJMH, Van Kernel JO, Halley DJJ, Fryns JP, Curfs LMG, Niermeijer MF, Oostra BA (1993): Mental status and fragile X expression in relation to FMR-1 gene mutation. Eur J Hum Genet 1:72-79.
2. Feng Y, Lakkes L, Devys D, Warren ST (1995a): Quantitative comparison of FMR1 gene expression in normal and premutation alleles. Am J Hum Genet 56:106-113.
3. Feng Y, Zhang F, Lokey LK, Chastain JL, Lakkis L, Eberhart D, Warren ST (1995b): Translational suppression by trinucleotide repeat expansion at FMR-1. Science 268:731-734.
4. Hagerman RJ, Hull CE, Safanda JF, Carpenter I, Staley LW, O'Connor RA, Seydel C, Mazzocco MMM, Snow K, Thibodeau SN, Kuhl D, Nelson DL, Caskey CT, Taylor AK (1994): High functioning fragile X males: Demonstration of an unmethylated full expanded FMR-1 mutation associated with protein expression. Am J Med Genet 51:298-308.
5. Loesch DZ, Huggins R, Hay DA, Gedeon AK, Mulley JC, Sutherland (1993): Genotype-phenotype relationships in fragile X syndrome. Am J Hum Genet 53:1064-1073.
6. McConkie-Rosell A, Lachiewicz A, Spiridigliozzi GA, Tarleton J, Schoenwald S, Phelan MC, Goonewardena P, Ding X, Brown WT (1993): Evidence that methylation of the FMR-1 locus is responsible for variable phenotypic expression of the fragile X syndrome. Am J Hum Genet 53:800-809.
7. Merenstein SA, Shyu V, Sobesky WE, Staley L, Berry-Kravis E, Nelson DL, Lugenbeel KA, Taylor AK, Pennington BF, Hagerman RJ (1994): Fragile X syndrome in a normal IQ male with learning and emotional problems. J Am Acad Child Adolesc Psychiatry 33:1316-1321.
8. Nolin SL, Glicksman A, Houck GE, Brown WT, Dobkin CS (1994): Mosaicism in fragile X affected males. Am J Med Genet 51:509-512.
9. Oberlé I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boué J, Bertheas MF, Mandel JL (1991): Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1097-1102.
10. Reyniers E, Vits L, DeBoulle K, VanRoy B, DeGraaf E, Verkerk AJMH, Jorens HZJ, Darby JK, Oostra BA, Willems PJ (1993): The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nature Genet 4:143-146.
11. Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Dretz C, Boue J, Tommerup N, Van der Hagen C, De Lozier-Blanchet C, Croquette M-F, Gelgenkrantz S, Jalbert P, Voeldkel M-A, Oberle I, Mandel J-L (1991): Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 325:1673-1681.
12. Rousseau F, Heitz D, Tarleton J, MacPherson J, Malmgren H, Dahl N, Barnicoat A, Mathew C, Mornet E, Tejada I, Maddalena A, Spiegel R, Schinzel A, Marcos JAG, Schorderet DF, Schaap T, Maccioni L, Russo S, Jacobs PA, Schwartz C, Mandel JL (1994a): A multicenter study on genotype-phenotype correlations with the fragile X syndrome, using direct diagnosis with probe StB12.3: The first 2,253 cases. Am J Hum Genet 55:225-237.
13. Rousseau F, Robb LJ, Rouillard P, Der Kaloustian VM (1994b): No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations. Hum Molec Genet 3(6):927-930.
14. Smeets HJM, Smits APT, Verheij CE, Theelen JPG, Willemsen R, van de Burgt I, Hoogeveen AT, Oosterwijk JC, Oostra BA (1995): Normal phenotype in two brothers with a full FMR1 mutation. Hum Molec Genet 4(11):2103-2108.
15. Sparrow SS, Balla DA, Cicchetti DV (1984): "Vineland Adaptive Behavior Scales, Interview Edition. Survey Form Manual." Circle Pines, MN: American Guidance Service.
16. Spiridigliozzi G, Lachiewicz AM, McConkie-Rosell A, Tarleton J (1995): Developmental problems in premutation carriers of the FMR-1 gene: Is this fragile X or not? Paper presented at the 7th International Workshop on the Fragile X and X-Linked Mental Retardation. August 2-5, Tromsø, Norway.
17. Staley L, Hull C, Mazzocco M, Thibodeau S, Snow K, Wilson V, Taylor A, McGavran L, Riddle J, O'Connor R, Hagerman R (1993): Molecular-clinical correlations in fragile X children and adults. AJDC 147:723-726.
18. Tarleton JC, Saul RA (1993): Molecular genetic advances in fragile X syndrome. J Pediatr 122:169-184.
19. Wechsler D (1981): "WAIS-R Manual: Wechsler Adult Intelligence Scale-Revised." San Antonio, TX: Psychological Corporation.
20. Willems PJ, Van Roy B, De Boulle K, Vits L, Reyniers E, Beck O, Dumon JE, Verkerk A, Oostra B (1992): Segregation of the fragile X mutation from an affected male to his normal daughter. Hum Molec Genet 1:511-514.
21. Woodcock RW, Johnson MB (1989): "Woodcock-Johnson Psycho-Educational Battery-Revised." Alien, TX: DLM Teaching Resources.