X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: Clinical and genetic studies

Stephan Claes, Koenraad Devriendt, Patrizia D'Adamo, Jan Meireleire, Peter Raeymaekers, Daniela Toniolo, Jean Jacques Cassiman, Jean Pierre Fryns

Research output: Contribution to journalArticle

Abstract

The combination of X-linked mental retardation (XLMR) and neurological disorders occurs in a number of syndromes. Differential diagnosis mostly depends on clinical data and mapping of responsible genes by linkage analysis. We present a Belgian family with severe XLMR and a progressive neurological disorder with ataxia, spasticity and convulsions. Biochemical investigations, neuroimaging and neuropathology were normal. Linkage analysis pointed to region Xq27-28 as the probable locus for the genetic defect. The sequence of the LICAM cDNA, a possible candidate gene, proved to be normal in the patients. This suggests the presence of a genetic factor on Xq27-28, different from L1CAM, which can lead to severe XLMR and a progressive neurological disorder.

Original languageEnglish
Pages (from-to)155-161
Number of pages7
JournalClinical Genetics
Volume52
Issue number3
Publication statusPublished - Sep 1997

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Keywords

  • L1CAM
  • Linkage analysis
  • Spastic paraplegia
  • X-linked mental retardation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Claes, S., Devriendt, K., D'Adamo, P., Meireleire, J., Raeymaekers, P., Toniolo, D., Cassiman, J. J., & Fryns, J. P. (1997). X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: Clinical and genetic studies. Clinical Genetics, 52(3), 155-161.