X-linked mental retardation: Evidence for a recent mutation in a five- generation family (MRX65) linked to the pericentromeric region

American Journal of Medical Genetics

Volumn 85, Issue 3, 1999, Pages 305-308

  Yntema, Helger G ^a   Van Den Helm, Bellinda ^a   Knoers, Nine V A M ^a   Smits, Arie P T ^a   Van Roosmalen, Tanja ^a   Smeets, Dominique F C M ^a   Mariman, Edwin C M ^a   Van Der Burgt, Ineke ^a   Van Bokhoven, Hans ^a   Ropers, Hans Hilger ^a,b   Kremer, Hannie ^a   Hamel, Ben C J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

Linkage; Nonspecific X linked mental retardation; X chromosome; Xp11.3 q21.33

Indexed keywords

ARTICLE; CENTROMERE; CHROMOSOME ANALYSIS; CHROMOSOME XP; CHROMOSOME XQ; CLINICAL ARTICLE; DNA FLANKING REGION; FAMILY HISTORY; FEMALE; GENE LOCUS; GENE MUTATION; HAPLOTYPE; HUMAN; KARYOTYPE; MALE; MARKER GENE; MENTAL DEFICIENCY; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PSYCHOMETRY; X CHROMOSOME LINKAGE; X CHROMOSOME LINKED DISORDER;

ADULT; BODY WEIGHTS AND MEASURES; CENTROMERE; CHILD; DNA; FAMILY HEALTH; FEMALE; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; MENTAL RETARDATION; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION; PEDIGREE; PSYCHIATRIC STATUS RATING SCALES; PSYCHOMETRICS; X CHROMOSOME;

EID: 0033066817     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990730)85:3<305::AID-AJMG22>3.0.CO;2-5     Document Type: Article

References (17)

1. American Psychiatric Association. 1994. DSM-IV. Washington, DC: APA. p 39-46.
2. Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrié, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns J-P, Beldjord C, Kahn A, Moraine C, Chelly J. 1998. Oligophrenin 1 encodes a rho-GAP protein involved in X-linked mental retardation. Nature 392:923-926.
3. Bleichrodt N, Drenth PJD, Zaal JM, Resing WCM. 1984. Revisie Amsterdamse Kinder Intelligentietest; Instructie, normen, psychometrische gegevens. Lisse, Netherlands: Swets & Zeitlinger.
4. D'Adamo P, Menegon A, LoNigro C, Grasso M, Gulisano M, Tamanini F, Bienvenu T, Gedeon AK, Oostra B, Wu S-K, Tandon A, Valtoria F, Balch WE, Chelly J, Tonido D. 1998. Mutations in GDI1 are responsible for X-linked non-specific mental retardation. Nat Genet 19:134-139.
5. Gecz J, Gedeon AK, Sutherland GR, Mulley JC. 1996. Identification of the gene FMR2, associated with FRAXE mental retardation. Nat Genet 63:105-108.
6. Grossman HJ, editor. 1977. Manual on terminology and classification in mental retardation. Washington, DC: American Asoociation of Mental Deficiency.
7. Kraijer DW, Kema GN. 1994a. Sociale Redzaamheidsschaal voor zwakzinnigen. Lisse, Netherlands: Zwets & Zeitlinger.
8. Kraijer DW, Kema GN. 1994b. Sociale Redzaamheidsschaal voor zwakzinnigen van hoger nivo. Lisse, Netherlands: Swets & Zeitlinger.
9. Lathrop GM, Lalouel J-M, Julier C, Ott J. 1984. Strategies for multilocus analysis in humans. Proc Natl Acad Sci USA 81:3443-3446.
10. Lathrop GM, Lalouel J-M. 1984. Easy calculations of LOD scores and genetic risks on small computers. Am J Hum Genet 36:460-465.
11. Lathrop GM, Lalouel J-M, White RL. 1985. Construction of human genetic linkage maps: likelihood calculations for multilocus analysis. Genet Epidemiol 3:39-52.
12. Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G. 1998. XLMR genes: update 1998. Am J Med Genet 83:237-247.
13. Miller SA, Dykes DD, Polesky HF. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215.
14. Nellhaus G .1968. Head circumference from birth to eighteen years: practical composite international and interracial graphs. Pediatrics 41: 106-115.
15. Nelson DL, Ballabio A, Cremers FPM, Monaco AP, Schlessinger D. 1995. Report of the sixth international workshop on X chromosome mapping 1995. Cytogenet Cell Genet 71:307-342.
16. van der Steene G, van Haasen PP, de Bruyn EEJ, Coetsier P, Pijl YJ, Poortinga YH, Spelberg HC, Spoelders R, Stinissen R. 1986. Wechsler intelligence scale for children-revised, Dutch version. Lisse, Netherlands: Swets & Zeitlinger.
17. Wechsler D. 1974. Wechsler intelligence scale for children-revised. New York: Psychological Corporation.