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X‐linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies
Author(s) -
Claes Stephan,
Devriendt Koenraad,
D'Adamo Patrizia,
Meireleire Jan,
Raeymaekers Peter,
Toniolo Daniela,
Cassiman JeanJacques,
Fryns JeanPierre
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02536.x
Subject(s) - genetic linkage , neuropathology , ataxia , genetic heterogeneity , spasticity , locus (genetics) , family history , genetics , neurological disorder , medicine , psychiatry , biology , gene , central nervous system disease , disease , pathology , physical therapy , phenotype
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 LI CAM 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 LI CAM, which can lead to severe XLMR and a progressive neurological disorder.