Localization of the gene (or genes] for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood

Human Genetics

Volumn 98, Issue 5, 1996, Pages 513-517

  Kremer, H ^a   Hamel, B C J ^a   Van den Helm, B ^a   Arts, W F M ^b   De Wijs, I J ^a   Sistermans, E A ^a   Ropers, H H ^a   Mariman, E C M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MEDICAL CENTER HAAGLANDEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN PROTEIN;

ADOLESCENT; ARTICLE; ATAXIA; CHILD; CHROMOSOME XP; CHROMOSOME XQ; FATALITY; GENE LOCATION; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; INFANTILE HYPOTONIA; MALE; MENTAL DEFICIENCY; MOTONEURON; MYELINATED NERVE; PRIORITY JOURNAL; SENSORY NERVE CELL; SPINAL CORD; VISUAL IMPAIRMENT; X CHROMOSOME LINKAGE;

ATAXIA; BLINDNESS; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; DEAFNESS; FEMALE; GENETIC DISEASES, INBORN; GENETIC MARKERS; HUMANS; LINKAGE (GENETICS); MALE; MENTAL RETARDATION; PEDIGREE; SYNDROME; X CHROMOSOME;

ATAXIA;

EID: 0029809954     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050250     Document Type: Article

References (29)

1. Arena JF, Lubs H (1991) Computerized approach to X-linked mental retardation syndromes. Am J Med Genet 38:190-199
2. Arts WFM, Loonen MCB, Sengers RCA, Slooff JL (1993) Xlinked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. Ann Neurol 33:535-539
3. Berger W, Meindl A, Pol TJR van de, Cremers FPM, Ropers H-H, Döerner C, Monaco A, et al (1992) Isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet 1: 199-203
4. Brunner HG, Nelen MR, Zandvoort P van, Abeling NGGM, Gennip AH van, Wolters EC, Kuiper MA, et al (1993) X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization and evidence for disturbed monoamine metabolism. Am J Hum Genet 32:1032-1039
5. Chelly J, Türner Z, Tønnesen T, Petterson A, Ishikawa-Brush Y, Tommerup N, Horn N, et al (1993) Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet 3:14-19
6. Chen Z-Y, Hendriks RW, Jobling MA, Powell JF, Breakefield XO, Sims KB, Craig IW (1992) Isolation and characterization of a candidate gene for Norrie disease. Nat Genet 1:204-208
7. Cremers FPM, Pfeiffer RA, Pol TJR van de, Hofker MH, Kruse TA, Wieringa B, Ropers H-H (1987) An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xql3-q22 region. Hum Genet 77:23-27
8. Diehl HJ, Schaich M, Budzinski R-M, Stoffel W (1986) Individual exons encode the integral membrane domains of human myelin proteolipid protein. Proc Natl Acad Sci USA 83:9807-9811
9. Ellis D, Malcolm S (1994) Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease. Nat Genet 6:333-334
10. Gencic S, Abuelo D, Ambler M, Hudson LD (1989) PelizaeusMerzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. Am J Hum Genet 45:435-442
11. Glass IA (1991) X linked mental retardation. J Med Genet 28: 361-371
12. Hudson LD, Puckett C, Berndt J, Chan J, Gencic S (1989) Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. Proc Natl Acad Sci USA 86:8128-8131
13. Lathrop GM, Lalouel JM (1984) Easy calculations of lodscores and genetic risks on small computers. Am J Hum Genet 36: 460-465
14. Mattei MG, Alliel PM, Dautigny A, Passage E, Pham-Dinh D, Mattei JF, Joliès P (1986) The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome. Hum Genet 72:352-353
15. Mercer JFB, Livingston J, Hall B, Paynter JA, Begy C, Schandrasekharappa S, Lockhart P, et al (1993) Isolation of a partial candidate gene for Menkes disease by positional cloning. Nat Genet 3:20-25
16. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
17. Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM (1986) Nature 323:646-650
18. Mosser J, Douar A-M, Sarde C-O, Kioschis P, Feil R, Moser H, Poustka A-M (1993) Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 361:726-730
19. Nave KA, Lai C, Bloom FE, Milner RJ (1987) Splice site selection in the proteolipid protein (PLP) gene transcript and primary structure of the DM-20 protein of central nervous system myelin. Proc Natl Acad Sci USA 84:5665-5669
20. Nelson DL, Ballabio A, Cremers F, Monaco AP, Schlessinger D (1995) Report of the sixth international workshop on X chromosome mapping 1995. Cytogenet Cell Genet 71:307-342
21. Neri G (1994) XLMR genes: update 1994. Am J Med Genet 51: 542-549
22. Saugier-Veber P, Munnich A, Bonneau D, Rozet J-M, Merrer M Le, Gil R, Boespflug-Tanguy O (19 94) X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet 6:257-262
23. Schmidley JW, Levinsohn MW, Manetto V (1987) Infantile Xlinked ataxia and deafness: a new clinicopathologic entity? Neurology 37:1344-1349
24. Tranebjaerg L, Schwartz C, Eriksen H, Andreasson S, Ponjavic V, Dahl A, Stevenson RE, et al (1995) A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet 32:257-263
25. Trofatter JA, Dlouhy SR, DeMyer W, Conneally PM, Modes EM (1989) Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant. Proc Natl Acad Sci USA 86: 9427-9430
26. Verkerk AIM, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DPA, Pizzuti A, Reiner O, et al (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variations in fragile X syndrome. Cell 65:905-914
27. Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J (1993) Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet 3:713
28. Weber JL, May PE (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 44:388-396
29. Wilson GN, Richards CS, Katz K, Brookshire GS (1992) Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11. J Med Genet 29: 629-634