Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy - PubMed (original) (raw)
R Cusano, P Forabosco, R Cinti, F Caroli, P Picco, R Bini, V B Morra, G De Michele, M Lerone, M Silengo, I Pela, C Borrone, G Romeo, M Devoto
Affiliations
- PMID: 9973297
- PMCID: PMC1377769
- DOI: 10.1086/302241
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
M Seri et al. Am J Hum Genet. 1999 Feb.
Abstract
We have recently observed a large pedigree with a new rare autosomal dominant spastic paraparesis. In three subsequent generations, 13 affected individuals presented with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and spastic paraparesis with amyotrophy. Bilateral cataracts occurred in all affected individuals, with the exception of one patient who presented with a chorioretinal dystrophy, whereas clinical signs of spastic paraparesis showed a variable expressivity. Using a genomewide mapping approach, we mapped the disorder to the long arm of chromosome 10 on band q23.3-q24.2, in a 12-cM chromosomal region where additional neurologic disorders have been localized. The spectrum of phenotypic manifestations in this family is reminiscent of a smaller pedigree, reported recently, confirming the possibility of a new syndrome. Finally, the anticipation of symptoms suggests that an unstable trinucleotide repeat may be responsible for the condition.
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References
- Ophthalmology. 1979 Sep;86(9):1554-8 - PubMed
- Ann Hum Genet. 1963 Aug;27:67-84 - PubMed
- J Clin Invest. 1992 Jul;90(1):61-6 - PubMed
- Am J Hum Genet. 1991 Jan;48(1):137-44 - PubMed
- Am J Hum Genet. 1990 Dec;47(6):904-14 - PubMed
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