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

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

IRCCS Ospedale San Raffaele

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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 language	English
Pages (from-to)	155-161
Number of pages	7
Journal	Clinical Genetics
Volume	52
Issue number	3
Publication status	Published - Sep 1997

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Keywords

L1CAM
Linkage analysis
Spastic paraplegia
X-linked mental retardation

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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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.

X-linked severe mental retardation and a progressive neurological disorder in a Belgian family : Clinical and genetic studies. / Claes, Stephan; Devriendt, Koenraad; D'Adamo, Patrizia; Meireleire, Jan; Raeymaekers, Peter; Toniolo, Daniela; Cassiman, Jean Jacques; Fryns, Jean Pierre.

In: Clinical Genetics, Vol. 52, No. 3, 09.1997, p. 155-161.

Research output: Contribution to journal › Article

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

Abstract

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Keywords

ASJC Scopus subject areas

Cite this

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