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Am J Hum Genet. 1998 May; 62(5): 1092–1101.
PMCID: PMC1377092

Renpenning syndrome maps to Xp11.


Mutations in genes on the X chromosome are believed to be responsible for the excess of males among individuals with mental retardation. Such genes are numerous, certainly >100, and cause both syndromal and nonsyndromal types of mental retardation. Clinical and molecular studies have been conducted on the Mennonite family with X-linked mental retardation (XLMR) reported, in 1962, by Renpenning et al. The clinical phenotype includes severe mental retardation, microcephaly, up-slanting palpebral fissures, small testes, and stature shorter than that of nonaffected males. Major malformations, neuromuscular abnormalities, and behavioral disturbances were not seen. Longevity is not impaired. Carrier females do not show heterozygote manifestations. The syndrome maps to Xp11.2-p11.4, with a maximum LOD score of 3.21 (recombination fraction 0) for markers between DXS1039 and DXS1068. Renpenning syndrome (also known as "MRXS8"; gene RENS1, MIM 309500) shares phenotypic manifestations with several other XLMR syndromes, notably the Sutherland-Haan syndrome. In none of these entities has the responsible gene been isolated; hence, the possibility that two or more of them may be allelic cannot be excluded at present.

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Selected References

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  • Archidiacono N, Rocchi M, Rinaldi A, Filippi G. X-linked mental retardation. II. Renpenning syndrome and other types (report of 14 families). J Genet Hum. 1987 Dec;35(5):381–398. [PubMed]
  • Arena JF, Schwartz C, Ouzts L, Stevenson R, Miller M, Garza J, Nance M, Lubs H. X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12. Am J Med Genet. 1996 Jul 12;64(1):50–58. [PubMed]
  • Billuart P, Vinet MC, des Portes V, Llense S, Richard L, Moutard ML, Recan D, Brüls T, Bienvenu T, Kahn A, et al. Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation. Hum Mol Genet. 1996 Jul;5(7):977–979. [PubMed]
  • des Portes V, Billuart P, Carrié A, Bachner L, Bienvenu T, Vinet MC, Beldjord C, Ponsot G, Kahn A, Boué J, et al. A gene for dominant nonspecific X-linked mental retardation is located in Xq28. Am J Hum Genet. 1997 Apr;60(4):903–909. [PMC free article] [PubMed]
  • Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 1996 Mar 14;380(6570):152–154. [PubMed]
  • Fox P, Fox D, Gerrard JW. X-linked mental retardation: Renpenning revisited. Am J Med Genet. 1980;7(4):491–495. [PubMed]
  • Gecz J, Gedeon AK, Sutherland GR, Mulley JC. Identification of the gene FMR2, associated with FRAXE mental retardation. Nat Genet. 1996 May;13(1):105–108. [PubMed]
  • Gedeon AK, Donnelly AJ, Mulley JC, Kerr B, Turner G. How many X-linked genes for non-specific mental retardation (MRX) are there? Am J Med Genet. 1996 Jul 12;64(1):158–162. [PubMed]
  • Gerrard JW, Renpenning HJ. Letter: Sex-linked mental retardation. Lancet. 1974 Jun 29;1(7870):1346–1346. [PubMed]
  • Gu Y, Shen Y, Gibbs RA, Nelson DL. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet. 1996 May;13(1):109–113. [PubMed]
  • Hamel BC, Kremer H, Wesby-van Swaay E, van den Helm B, Smits AP, Oostra BA, Ropers HH, Mariman EC. A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28. Am J Med Genet. 1996 Jul 12;64(1):131–133. [PubMed]
  • Howard-Peebles PN, Stoddard GR, Mims MG. Familial X-linked mental retardation, verbal disability, and marker X chromosomes. Am J Hum Genet. 1979 Mar;31(2):214–222. [PMC free article] [PubMed]
  • Jennings M, Hall JG, Hoehn H. Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome). Am J Med Genet. 1980;7(4):417–432. [PubMed]
  • Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984 Mar;36(2):460–465. [PMC free article] [PubMed]
  • Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet. 1985 May;37(3):482–498. [PMC free article] [PubMed]
  • LOSOWSKY MS. Hereditary mental defect showing the pattern of sex influence. J Ment Defic Res. 1961 Jun;5:60–62. [PubMed]
  • Lubs HA. A marker X chromosome. Am J Hum Genet. 1969 May;21(3):231–244. [PMC free article] [PubMed]
  • Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G. XLMR genes: update 1996. Am J Med Genet. 1996 Jul 12;64(1):147–157. [PubMed]
  • Mansfield DC, Brown AF, Green DK, Carothers AD, Morris SW, Evans HJ, Wright AF. Automation of genetic linkage analysis using fluorescent microsatellite markers. Genomics. 1994 Nov 15;24(2):225–233. [PubMed]
  • McLaughlin JF, Kriegsmann E. Developmental dyspraxia in a family with X-linked mental retardation (Renpenning syndrome). Dev Med Child Neurol. 1980 Feb;22(1):84–92. [PubMed]
  • Miles JH, Carpenter NJ. Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31. Am J Med Genet. 1991 Feb-Mar;38(2-3):215–223. [PubMed]
  • Sixth International Workshop on Human X Chromosome Mapping 1995. Banff, Alberta, Canada, June 16-18, 1995. Report and abstracts. Cytogenet Cell Genet. 1995;71(4):307–342. [PubMed]
  • Prieto F, Badía L, Mulas F, Monfort A, Mora F. X-linked dysmorphic syndrome with mental retardation. Clin Genet. 1987 Nov;32(5):326–334. [PubMed]
  • Proops R, Webb T. The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation. J Med Genet. 1981 Oct;18(5):366–373. [PMC free article] [PubMed]
  • RENPENNING H, GERRARD JW, ZALESKI WA, TABATA T. Familial sex-linked mental retardation. Can Med Assoc J. 1962 Nov 3;87:954–956. [PMC free article] [PubMed]
  • Richards BW. "Renpenning" syndrome. Lancet. 1970 Sep 5;2(7671):520–520. [PubMed]
  • Richards BW, Sylvester PE, Brooker C. Fragile X-linked mental retardation: the Martin-Bell syndrome. J Ment Defic Res. 1981 Dec;25(Pt 4):253–256. [PubMed]
  • Robledo R, Melis P, Siniscalco M, Marchi J, Laficara F, Rinaldi A, Rocchi M, Filippi G. +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. 1996 Jul 12;64(1):134–136. [PubMed]
  • Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO, Stevenson RE. Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21. Am J Hum Genet. 1990 Sep;47(3):454–458. [PMC free article] [PubMed]
  • Snyder RD, Robinson A. Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family. Clin Pediatr (Phila) 1969 Nov;8(11):669–674. [PubMed]
  • Steele MW, Chorazy AL. Letter: Renpenning's syndrome. Lancet. 1974 Apr 20;1(7860):752–753. [PubMed]
  • Stevenson RE, Goodman HO, Schwartz CE, Simensen RJ, McLean WT, Jr, Herndon CN. Allan-Herndon syndrome. I. Clinical studies. Am J Hum Genet. 1990 Sep;47(3):446–453. [PMC free article] [PubMed]
  • Sukpanichnant S, Vnencak-Jones CL, McCurley TL. 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. 1993 Sep;2(3):168–176. [PubMed]
  • Sutherland GR, Gedeon AK, Haan EA, Woodroffe P, Mulley JC. Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2) Am J Med Genet. 1988 May-Jun;30(1-2):493–508. [PubMed]
  • Turner G, Engisch B, Lindsay DG, Turner B. X-linked mental retardation without physical abnormality (Renpenning's syndrome) in sibs in an institution. J Med Genet. 1972 Sep;9(3):324–330. [PMC free article] [PubMed]
  • Turner G, Turner B, Collins E. Renpenning's syndrome--X-linked mental retardation. Lancet. 1970 Aug 15;2(7668):365–366. [PubMed]
  • Wilson M, Mulley J, Gedeon A, Robinson H, Turner G. New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255. Am J Med Genet. 1991 Sep 15;40(4):406–413. [PubMed]

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