Summary
MASA syndrome (mental retardation, aphasia, shuffling gait and adducted thumbs) is an X-linked disorder first described in 1974. Since that time, two further pedigrees have been reported with similar features. The main clinical features are summarised by the acronym. Kenwrick et al. reported a separate family with X-linked recessive spastic paraplegia and mental retardation and demonstrated close linkage to DXS15 and DXS52 (DX13 and St14) at Xq28. Four affected individuals in this family were said to have absence of the extensor pollicis longus. Here we report a family where two adult brothers and their nephew have the phenotype of MASA syndrome. We demonstrate by clinical and gene mapping studies that MASA syndrome is most likely the same condition as that described by Kenwrick et al., and we review its clinical course and presentation.
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References
Bianchine JW, Lewis RC (1974) The MASA syndrome: a new hereditable mental retardation syndrome. Clin Genet 5:298–306
Gareis F, Mason JD (1984) X-Linked mental retardation associated with bilateral clasp thumb anomaly. Am J Med Genet 17:333–338
Kenwrick S, Ionasescu V, Jonasescu G, Searby C, King A, Dubowitz M, Davies KE (1986) Linkage studies of X-linked recessive spastic paralegia using DNA studies. Hum Genet 73:264–266
Keppen LD, Leppert MF, O'Connell P, Nakumara Y, Stauffer D, Lathrop M, Lalouel J-M, White R (1987) Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 41:933–943
Lathrop M, Lalouel J-M, Ott J (1985) Multilocus linkage analysis in humans: detetion of linkage and estimation of recombination. Am J Hum Genet 37:482–498
Wieacker P, Davies KE, Cooke HJ, Pearson PL, Williamson R, Bhattacharya S, Zimmer J, Ropers H-H (1984) Towards a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids. Am J Hum Genet 36:265–276
Yeatman GW (1984) Mental retardation-clasped thumb syndrome. Am J Med Genet 17:339–344
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Winter, R.M., Davies, K.E., Bell, M.V. et al. MASA syndrome: further clinical delineation and chromosomal localisation. Hum Genet 82, 367–370 (1989). https://doi.org/10.1007/BF00273999
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DOI: https://doi.org/10.1007/BF00273999