Author/Editor		Claes, S; Devriendt, K; D'Adamo, P; Meireleire, J; Raeymaekers, P; Toniolo, D; Cassiman, JJ; Fryns, JP
Title		X-linked severe mental retardation and a progressive neurological disorder in a Belgian family: clinical and genetic studies
Type		članek
Source		Clin Genet
Vol. and No.		Letnik 52, št. 3
Publication year		1997
Volume		str. 155-61
Language		eng
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 L1CAM 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.
Descriptors		ADULT BELGIUM CENTRAL NERVOUS SYSTEM CHILD CHILD, PRESCHOOL CHROMOSOME MAPPING DNA MUTATIONAL ANALYSIS DNA, COMPLEMENTARY DISEASE PROGRESSION FAMILY HEALTH GENES GENETIC MARKERS INFANT KARYOTYPING MENTAL RETARDATION PEDIGREE X CHROMOSOME