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

Marco Seri, Roberto Cusano, Paola Forabosco, Roberta Cinti, Francesco Caroli, Paolo Picco, Rita Bini, Vincenzo Brescia Morra, Giuseppe De Michele, Margherita Lerone, Margherita Silengo, Ivana Pela, Carla Borrone, Giovanni Romeo, Marcella Devoto

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)586-593
Number of pages8
JournalAmerican Journal of Human Genetics
Volume64
Issue number2
Publication statusPublished - 1999

ASJC Scopus subject areas

  • Genetics

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