Abstract |
The syndrome of infantile spasms, hypsarrhythmia, and mental retardation ( West syndrome) is a classical form of epilepsy, occurring in early infancy, which is etiologically heterogeneous. In rare families, West syndrome is an X-linked recessive condition, mapped to Xp11.4-Xpter (MIM 308350). We have identified a multi-generation family from Western Canada with this rare syndrome of infantile spasms, seen exclusively in male offspring from asymptomatic mothers, thereby confirming segregation as an X-linked recessive trait. Using highly polymorphic microsatellite CA-repeat probes evenly distributed over the entire X chromosome, linkage to markers DXS7110, DXS989, DXS1202, and DXS7106 was confirmed, with a maximum LOD score of 3.97 at a theta of 0.0. The identification of key recombinants refined the disease-containing interval between markers DXS1226 and the adrenal hypoplasia locus (AHC). This now maps the X-linked infantile spasms gene locus to chromosome Xp21.3-Xp22.1 and refines the interval containing the candidate gene to 7.0 cM. Furthermore, this interval overlaps several loci previously linked with either syndromic or non-syndromic X-linked mental retardation (XLMR), including one recognized locus implicated in neuroaxonal processing ( radixin, RDXP2). Collectively, these studies lend strong support for the presence of one or more genes intrinsic to brain development and function, occurring within the critical interval defined between Xp21.3-Xp22.1.
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Authors | H Bruyere, S Lewis, S Wood, P J MacLeod, S Langlois |
Journal | Clinical genetics
(Clin Genet)
Vol. 55
Issue 3
Pg. 173-81
(Mar 1999)
ISSN: 0009-9163 [Print] Denmark |
PMID | 10334471
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Chromosome Mapping
- DNA
(genetics)
- Family Health
- Female
- Genetic Linkage
- Genotype
- Humans
- Lod Score
- Male
- Microsatellite Repeats
- Pedigree
- Spasms, Infantile
(genetics)
- X Chromosome
(genetics)
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