Renpenning syndrome maps to Xp11

American Journal of Human Genetics

Volumn 62, Issue 5, 1998, Pages 1092-1101

  Stevenson, Roger E ^a   Arena, J Fernando ^b   Ouzts, Elizabeth ^a   Gibson, Alice ^c   Shokeir, M H K ^c   Vnencak Jones, Cindy ^d   Lubs, Herbert A ^b   May, M ^a   Schwartz, Charles E ^a  

^a GREENWOOD GENETIC CENTER   (United States)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c ROYAL UNIVERSITY HOSPITAL   (Canada)

^d VANDERBILT UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME XP; CLINICAL ARTICLE; GENETIC LINKAGE; HETEROZYGOTE; HUMAN; INTELLIGENCE QUOTIENT; MALE; MENTAL DEFICIENCY; MICROCEPHALY; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; TESTIS SIZE; UPWARD PALPEBRAL SLANT; X CHROMOSOME LINKED DISORDER;

EID: 0031982141     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301835     Document Type: Article

References (48)

1. Allan W, Herndon CN, Dudley FC (1944) Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly. Am J Ment Defic 48:325-334
2. Archidiacono N, Rocchi M, Rinalki A, Filippi G (1987) X-linked mental retardation. II. Renpenning syndrome and other types (report of 14 families). J Genet Hum 35:381-398
3. Arena JF, Schwartz CE, Ouzts L, Stevenson RE, Miller M, Garza J, Nance M, et al (1996) X-linked mental retardation with thin habitus, asymmetric face and prominent lower lip: linkage to Xp21.3-p22.12. Am J Med Genet 64:50-58
4. Billuart P, Vinet MC, Portes V, Llense S, Richard L, Moutard ML, Recan D, et al (1996) Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with nonspecific mental retardation. Hum Mol Genet 5:977-979
5. Claes S, Devriendt K, Laga L, Raeymaekers P, Cassiman JJ, Fryns JP. Mapping of a genetic factor for the X-linked infantile spasms syndrome (MIM 308350) to Xp11.4-Xpter in two pedigrees. Am J Med Genet (in press)
6. des Portes V, Billuart P, Carrie A, Bachner L, Bienvenu T, Vinet MC, Beldjord C, et al (1997) A gene for dominant nonspecific X-linked mental retardation is located in Xq28. Am J Hum Genet 60:903-909
7. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
8. Dunn HG, Renpenning H, Gerrard JW, Tabata T, Federoff S (1962-63) Mental retardation as a sex-linked defect. Am J Ment Defic 67:827-848
9. Fox P, Fox D, Gerrard JW (1980) X-linked mental retardation: Renpenning revisited. Am J Med Genet 7:491-495
10. Gecz J, Gedeon AK, Sutherland GR, Mulley JC (1996) Identification of the gene FMR2, associated with FRAXE mental retardation. Nat Genet 13:105-108
11. Gedeon AK, Donnelly AJ, Mulley JC, Kerr B, Turner G (1996) How many X-linked genes for non-specific mental retardation (MRX) are there? Am J Med Genet 64:158-162
12. Gerrard JW, Renpenning HJ (1974) Sex-linked mental retardation. Lancet 1:1346
13. Gu Y, Shen Y, Gibbs RA, Nelson DL (1996) Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet 13:109-113
14. Hamel BCJ, Kremer H, Wesby-van Swaay E, van den Helm B, Smits APT, Oostra BA, Ropers H-H, et al (1996) A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28. Am J Med Genet 64: 131-133
15. Hamel BCJ, Breslau-Siderius LJ, van Bokhoven H, van den Helm B, Kremer H, Heineman-de Boer JA, Ropers HH, et al. A new X-linked mental retardation syndrome with cleft lip/palate maps to Xp11.3-q21.3. Am J Med Genet (in press-a)
16. Hamel BCJ, Renier WO, Wesseling P, van den Helm BA, Kremer H, Ropers HH, Mariman ECM. A new X-linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, dysmyelination, and early death maps to the pericentromeric region. Am J Med Genet (in press-b)
17. Howard-Peebles PN, Stoddard GR, Mims MG (1979) Familial X-linked mental retardation, verbal disability, and marker X chromosomes. Am J Hum Genet 31:214-222
18. Jennings M, Hall JG, Hoehn H (1980) Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome). Am J Med Genet 7:417-432
19. Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
20. Lathrop GM, Lalouel JM, Julier C, Ott J (1985) Multilocus linkage analysis in humans: detections of linkage and estimation of recombination. Am J Hum Genet 37:482-498
21. Losowsky MS (1961) Hereditary mental defect showing the pattern of sex influence. J Ment Defic Res 5:60-62
22. Lubs HA (1969) A marker X chromosome. Am J Hum Genet 21:231-244
23. Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G (1996) XLMR genes: update 1996. Am J Med Genet 64:147-157
24. _. XLMR genes: update 1998. Am J Med Genet (in press)
25. Mansfield DC, Brown AF, Green DK, Carothers AD, Morris SW, Evans HJ, Wright AF (1994) Automation of genetic linkage analysis using fluorescent microsatellite markers. Genomics 24:225-233
26. Martin JP, Bell J (1943) A pedigree of mental defect showing sex-linkage. J Neurol Psychiatry 6:154-157
27. McLaughlin JF, Kriegsmann E (1980) Developmental dyspraxia in a family with X-linked mental retardation (Renpenning syndrome). Dev Med Child Neurol 22:84-92
28. Miles JH, Carpenter NJ (1991) Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31. Am J Med Genet 38:215-223
29. 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
30. Porteous MEM, Johnson H, Burm J, Curtis A, Lindsay S, Bhattacharya SS, Goodship JA (1992) A new mental retardation syndrome mapping to the pericentromeric region of the X-chromosome. Am J Hum Genet Suppl 51:A106
31. Prieto F, Badia L, Mulas F, Monfort A, Mora F (1987) X-linked dysmorphic syndrome with mental retardation. Clin Genet 32: 326-334
32. Proops R, Webb T (1981) The fragile X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation. J Med Genet 18: 366-373
33. Raeymaekers P, Lin J, Gu XX, Sockarman D, Cassiman J-J, Fryns J-P, Marynen P (1996) Non-specific mental retardation is probably caused by a microdeletion in Belgian family. Am J Med Genet 64:16
34. Renpenning H, Gerrard JW, Zaleski WA, Tabata T (1962) Familial sex-linked mental retardation. Can Med Assoc J 87:954-956
35. Richards BW (1970) Renpenning syndrome. Lancet 2:520
36. Richards BW, Sylvester PE, Brooker C (1981) Fragile X-linked mental retardation: the Martin-Bell syndrome. J Ment Defic Res 25:253-256
37. Robledo R, Melis P, Siniscalco M, Marchi J, Laficara F, Rinaldi A, Rocchi M, et al (1994) +2.71 LOD score at zero recombination is not sufficient for establishing linkage between X-linked mental retardation and X-chromosome markers. Am J Med Genet 64:134-136
38. Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO, Stevenson RE (1990) Allan Herndon syndrome. II. Linkage to DNA markers in Xq21. Am J Hum Genet 47:454-458
39. Snyder RD, Robinson A (1969) Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family. Clin Pediatr 8:669-674
40. Steele MW, Chorazy AL (1974) Renpenning's syndrome. Lancet 1:752-753
41. Stevenson RE, Goodman HO, Schwartz, CE, Simensen RJ, McLean WT Jr, Herndon CN (1990) Allan-Herndon syndrome. I. Clinical studies. Am J Hum Genet 47:446-453
42. Sukpanichnant S, Vnencak-Jones CL, McCurley TL (1993) Detection of clonal immunoglobulin heavy chain gene rearrangements by polymerase chain reaction in scrapings from archival hematoxylin and eosin-stained histologic sections: implications for molecular genetic studies of focal pathologic lesions. Diagn Mol Pathol 2:168-176
43. Sutherland GR, Gedeon AK, Haan EA, Woodroffe P, Mulley JC (1988) Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2). Am J Med Genet 30:493-508
44. Turner G, Engisch B, Lindsay DG, Turner B (1972) X-linked mental retardation without physical abnormality (Renpenning's syndrome) in sibs in an institution. J Med Genet 9: 324-330
45. Turner G, Turner B, Collins E (1970) Renpenning's syndrome - X-linked mental retardation. Lancet 2:365-366
46. _ (1971) X-linked mental retardation without physical abnormality: Renpenning's syndrome. Dev Med Child Neurol 13:71-78
47. van der Maarel S, Scholten I, Olde Weghuis D, Huber I, Röhme D, Gilgenkrantz S, Kere J, et al (1996) Cloning of candidate genes for X-linked mental retardation by use of chromosomal aberrations. Am J Med Genet 64:19
48. Wilson M, Mulley J, Gedeon A, Robinson H, Turner G (1991) New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255. Am J Med Genet 40:406-413