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J Med Genet. Sep 2000; 37(9): 663–668.
PMCID: PMC1734699

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25

Abstract

METHODS—A large family is described in which mental retardation segregates as an X linked trait. Six affected males in three generations were studied by linkage and clinical examination.
RESULTS—Characteristic clinical features include short stature, prominent lower lip, small testes, muscle wasting of the lower legs, kyphosis, joint hyperextensibility, abnormal gait, tremor, and decreased fine motor coordination. Affected subjects also had impaired speech and decreased attention span. A carrier female was mildly affected. A similar disorder was not found on review of our XLMR Database of 124 syndromes. Linkage analysis of 37 markers resulted in a lod score of 2.80 at DXS1212 and 2.76 at DXS425. The limiting markers were DXS424 and DXS1047. Ten of 124 XLMR syndromes and eight of 58 MRX families overlap this region.
CONCLUSIONS—In summary, this family appears to have a new XLMR syndrome localising to Xq24-q25.


Keywords: X linked mental retardation; Xq24-q25; syndrome

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Selected References

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  • 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]
  • Lubs H, Chiurazzi P, Arena J, Schwartz C, Tranebjaerg L, Neri G. XLMR genes: update 1998. Am J Med Genet. 1999 Apr 2;83(4):237–247. [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]
  • 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]
  • 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]
  • Cottingham RW, Jr, Idury RM, Schäffer AA. Faster sequential genetic linkage computations. Am J Hum Genet. 1993 Jul;53(1):252–263. [PMC free article] [PubMed]
  • Merienne K, Jacquot S, Pannetier S, Zeniou M, Bankier A, Gecz J, Mandel JL, Mulley J, Sassone-Corsi P, Hanauer A. A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nat Genet. 1999 May;22(1):13–14. [PubMed]
  • Turner G, Gedeon A, Mulley J, Sutherland G, Rae J, Power K, Arthur I. Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27. Am J Med Genet. 1989 Dec;34(4):463–469. [PubMed]
  • Raynaud M, Ronce N, Ayrault AD, Francannet C, Malpuech G, Moraine C. X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family. Am J Med Genet. 1998 Mar 19;76(3):255–261. [PubMed]
  • Hamel BC, Smits AP, Otten BJ, van den Helm B, Ropers HH, Mariman EC. Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings. Am J Med Genet. 1996 Jul 12;64(1):35–41. [PubMed]
  • Christianson AL, Stevenson RE, van der Meyden CH, Pelser J, Theron FW, van Rensburg PL, Chandler M, Schwartz CE. X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27. J Med Genet. 1999 Oct;36(10):759–766. [PMC free article] [PubMed]
  • Arena JF, Schwartz C, Stevenson R, Lawrence L, Carpenter A, Duara R, Ledbetter D, Huang T, Lehner T, Ott J, et al. Spastic paraplegia with iron deposits in the basal ganglia: a new X-linked mental retardation syndrome. Am J Med Genet. 43(1-2):479–490. [PubMed]
  • Chudley AE, Tackels DC, Lubs HA, Arena JF, Stoeber WP, Kovnats S, Stevenson RE, Schwartz CE. X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between xq21.33 and Xq23. Am J Med Genet. 1999 Jul 30;85(3):255–262. [PubMed]

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