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
Article Abstract:
A new syndrome involving gastroesophageal reflux, bilateral cataracts, and spastic paraparesis with amyotrophy has been mapped to 10q23.3-q24.2. In a large Italian pedigree with the syndrome a genomewide search was done.. the three generations 13 people had bilateral cataracts, spastic paraparesis with amyotrophy and gastroesophageal reflux with persistent vomiting. In all affected persons except one bilateral cataracts were found. The exception presented with a chorioretinal dystrophy. An unstable trinucleotide repeat may underlie the condition.
author: Forabosco, Paola, Seri, Marco, Devoto, Marcella, Picco, Paolo, Michele, Giuseppe De, Romeo, Giovanni, Cusano, Roberto, Cinti, Roberta, Caroli, Francesco, Bini, Rita, Morra, Vincezo Brescia, Lerone, Margherita, Silengo, Margherita, Pela, Ivana, Bonnone, Carla
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
France, Usage, Statistics, Cataract, Chromosome mapping, Genetic disorders, Cataracts, Gastroesophageal reflux, Atrophy, Muscular, Muscular atrophy, Children, Blind, Blind children, Paraparesis, Tropical spastic, Tropical spastic paraparesis
Genetic heterogeneity in Italian families with IgA nephropathy: Suggestive linkage for two novel IgA nephropathy Loci
Article Abstract:
A locus for familial IgA nephropathy (IgAN), called 'IGAN1', on chromosome 6q22-23 is described, without the identification of any responsible gene. The results have provided evidence for genetic heterogeneity among families with IgAN and the evidence of linkage to multiple chromosomal regions is consistent with both an oligo/polygenic and a multiple-susceptibility-gene model for familial IgAN, with small or moderate effects in determining the pathological phenotype.
author: Schena, Francesco Paolo, Bisceglia, Luigi, Cerullo, Giuseppina, Forabosco, Paola, Torres, Diletta Domenica, Scolari, Francesco, Di Perna, Michele, Foramitti, Marina, Amoroso, Antonio, Bertok, Sara, Floege, Jurgen, Mertens, Peter Rene, Zerres, Klaus, Alexopoulos, Efstathios, Kirmizis, Dimitrios, Ermelinda, Mazzucco, Zelanta, Leopoldo
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2006
Chromosomes, Genetic research, IgA glomerulonephritis, Report
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4
Article Abstract:
The disruption of frabin/FGD4, a guanine nucleotide exchange factor (GEF) for the Rho GTPase cell-division cycle 42 (Cdc42), has caused peripheral nerve demyelination in patients with autosomal recessive Charcot-Marie-Tooth (CMT) neuropathy. Fabrin's ability to induce Cdc42-mediated cell-shape changes in transfected Schwann cells has indicated that Rho GTPase signaling is necessary for proper myelination of the peripheral nervous system.
author: Suter, Ueli, Timmerman, Vincent, Zerres, Klaus, Stendel, Claudia, Roos, Andreas, Deconinck, Tine, Pereira, Jorge, Castagner, Francois, Niemann, Axel, Kirschner, Jandernd, Korinthenberg, Rudolf, Ketelsen, Uwe-Peter, Battaloglu, Esra, Parman, Yesim, Nicholson, Garth, Ouvrier, Robert, Seeger, Jurgen, De Jonghe, Peter, Weis, Joachim, Kruttgen, Alexander, Rudnik-Schoneborn, Sabine, Bergmann, Carsten, Relvas, Joao B., Senderek, Jan
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2007
United States, Gene mutations, Gene mutation, Cell division, Peripheral nerve diseases, Peripheral nervous system diseases
subjects list: Research, Italy, Genetic aspects
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