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Case Reports
. 2006 Dec;70(6):509-15.
doi: 10.1111/j.1399-0004.2006.00723.x.

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation

M Field  1 , P Tarpey, J Boyle, S Edkins, J Goodship, Y Luo, J Moon, J Teague, M R Stratton, P A Futreal, R Wooster, F L Raymond, G Turner
Affiliations
Case Reports

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation

M Field et al. Clin Genet. 2006 Dec.

Abstract

We describe three families with X-linked mental retardation, two with a deletion of a single amino acid and one with a missense mutation in the proximal domain of the RSK2(RPS6KA3) (ribosomal protein S6 kinase, 90 kDa, polypeptide 3) protein similar to mutations found in Coffin-Lowry syndrome (CLS). In two families, the clinical diagnosis had been nonsyndromic X-linked mental retardation. In the third family, although CLS had been suspected, the clinical features were atypical and the degree of intellectual disability much less than expected. These families show that strict reliance on classical clinical criteria for mutation testing may result in a missed diagnosis. A less targeted screening approach to mutation testing is advocated.

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Figures

Fig. 1
Fig. 1
Solid symbol indicates intellectually delayed male; carrier female indicated by bull’s-eye. Solid bar above symbol indicates subject examined.
Fig. 2
Fig. 2
Family 1. (a) III:2 (aged 7 years). Note long face with hypotonic appearance. (b) Left to right: III:3, III:1 and III:2 (aged 16, 19 and 18 years, respectively). Note fullness and eversion of lower lip, prominent forehead and mild coarsening of facial features in males. (c) II:3 (age 40 years).
Fig. 3
Fig. 3
Family 1. Note the absence of digital tapering in III:1, III:2 and III:3.
Fig. 4
Fig. 4
Family 2. Left to right: III:2, III:4 and III:3 (aged 17, 10 and 16 years, respectively). Note prominent forehead, full lower lip and broad nasal tip and thickening alae nares in older males.
Fig. 5
Fig. 5
Amino acid conservation across species.
See this image and copyright information in PMC

References

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