Abstract |
We evaluated a kindred with X-linked mental retardation and epilepsy. Seven affected males with mild to moderate mental retardation developed seizures (primarily generalized, tonic-clonic, and atonic) that began on average at 6.8 months of age (range, 4 to 14 months). These patients did not have a history of infantile spasms. There were no dysmorphic features. Other than mental retardation, the neurological examination was unremarkable, with exception of 2 affected subjects who had mild generalized rigidity and ataxia. We identified tight linkage to a group of markers on Xp21.1-p11.4. A maximum two-point LOD score of +3.83 at straight theta = 0 was obtained for markers DXS8090, DXS1069, DXS8102, and DXS8085. This locus spans 7.7cM between DXS1049 and DXS8054 and does not overlap the locus for X-linked West syndrome. The tetraspanin gene, implicated in nonspecific mental retardation, is mapped to this region. We sequenced the tetraspanin coding sequence in subjects with X-linked mental retardation and epilepsy and did not identify disease-specific mutations. The syndrome we describe, designated X-linked mental retardation and epilepsy, is clinically and genetically distinct from X-linked West syndrome and other X-linked mental retardation- epilepsy syndromes.
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Authors | Peter Hedera, David Alvarado, Ahmad Beydoun, John K Fink |
Journal | Annals of neurology
(Ann Neurol)
Vol. 51
Issue 1
Pg. 45-50
(Jan 2002)
ISSN: 0364-5134 [Print] United States |
PMID | 11782983
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Membrane Proteins
- Nerve Tissue Proteins
- TSPAN2 protein, human
- Tetraspanins
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Topics |
- Adolescent
- Adult
- Child
- Child Development
- Child, Preschool
- Electroencephalography
- Electromyography
- Epilepsy
(complications, diagnosis, genetics)
- Family Health
- Female
- Gait Disorders, Neurologic
(complications)
- Humans
- Intellectual Disability
(complications, genetics)
- Lod Score
- Male
- Membrane Proteins
(genetics)
- Mutation
- Nerve Tissue Proteins
(genetics)
- Neural Conduction
- Pedigree
- Scoliosis
(complications)
- Tetraspanins
- X Chromosome
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