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F Capon

Publications and source records attributed to F Capon.

31 records · Page 2Linked to original sources
PubMed1996

Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.

Multicopy dinucleotide repeats have been characterized in the spinal muscular atrophy (SMA) region on chromosome 5q13, which reveal deletions in some SMA patients. 119 Italian and Spanish SMA families have been analysed using the C272 and C212 markers. Seventy percent of these families were informative. We found 9.4% de novo deletions in SMA I and 1.5% in SMA II families. A single inherited deletion segregating in a Spanish pedigree was detected in three affected brothers. A SMA II patient showed deletion only of C272. The data presented in this study are relevant to the molecular diagnosis of SMA families in Italy and Spain and provide additional insights toward the understanding of the molecular pathology of SMA.

Alleles↗
PubMed1996

Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern.

Three type III spinal muscular atrophy (SMA) families are described in which the same deletion pattern for SMN gene and flanking loci is apparent in both affected and unaffected siblings. Deletions extending to include the NAIP gene are reported in one sibship. All three individuals in which SMN and/or NAIP deletions were detected showed the same haplotypes for SMA linked microsatellite markers as their affected sibs. The three index cases had a SMA III with early onset (1.5-2 yr) and became chairbound at the age 4, 5 and 20 yr. The three haploidentical sibs were given a clinical severity score. One of them showed no sign of the disease at the age of 4 yr and was considered "unaffected"; a 35-yr-old female, who had no symptoms but showed tongue fasciculations and hand tremor was considered "asymptomatic"; a 34-yr-old female, who had mild muscular weakness since the age of 24, was rated "mild". These observations demonstrate the presence of a continuum of clinical variability within SMA III families. These data suggest that, in these three families at least, the SMA phenotype is caused or influenced by another gene(s) additional to SMN.

Adult↗
PubMed1995

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

We have identified and characterized four different mRNA isoforms of the survival motor neuron (SMN) gene from skeletal muscle of 9 SMA patients and 15 unaffected controls. These isoforms appear to be generated by combinatorial splicing of both exons 5 and 7 of the SMN telomeric and centromeric gene copies. The full-size and the truncated SMN-1b isoforms of the telomeric SMN copy are significantly reduced in muscle of SMA patients, irrespective of the disease types. Our results suggest that multiple RNA splicing is operative in the two SMN-related genes and that SMN-related polypeptides may be active in the muscle.

Alternative Splicing↗
PubMed1995

Identification of multiple transcribed sequences from the spinal muscular atrophy region of human chromosome 5.

We report the isolation and characterization of novel expressed sequences from the spinal muscular atrophy (SMA) region on human chromosome 5q13. Based on the sequence homology studies these cDNAs were grouped in four classes, one of which shows extensive homologies with the beta-glucuronidase (BG) gene, differing in exon arrangement. The other cDNAs do not show any strong homology with known DNA sequences.

Base Sequence↗
PubMed1995

Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13.

Two sibs affected by the severe neonatal form of spinal muscular atrophy (SMA) with diaphragmatic paralysis are described. The two sibs were discordant for the haplotypes determined by DNA markers flanking the SMA locus. This supports non-linkage of SMA to chromosome 5 in this family and indicates that the uncommon SMA type I variant associated with early onset respiratory failure maps outside the 5q11.2-q13.3 region.

Adult↗
PubMed1994

First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers.

Twenty-five pregnancies at risk for spinal muscular atrophy I (SMA I) have been monitored by first-trimester prenatal diagnosis. Microsatellite markers were used in all cases to amplify polymorphic regions at the D5S125, D5S435, D5S39, D5S127, and D5S112 loci. All families, including 12 SMA I pedigrees with a decreased index child, were fully informative for DNA analysis. Three fetuses were predicted to be affected and 22 fetuses were predicted to be unaffected. Twenty-two newborns were unaffected by clinical examination at birth. These results support the accuracy of SMA I prenatal diagnosis based on linkage analysis.

Base Sequence↗
PubMed1993

A tool for the molecular analysis of an early lethal disease: slide-PCR in spinal muscular atrophy patients.

DNA was recovered from sections of muscle biopsies of 20 spinal muscular atrophy (SMA) patients fixed on microscopic slides and stored from one to 20 years at room temperature. Microsatellite DNA markers tightly linked to the SMA locus were amplified using the polymerase chain reaction (PCR) to obtain specific amplified products. The procedure was successful in all cases, and allowed prenatal diagnosis in one at-risk pregnancy. In our hands this procedure is quick, sensitive and reproducible.

Alleles↗
PubMedDate not supplied

Advances in the search for psoriasis susceptibility genes.

Psoriasis (PS) is a common skin disorder affecting approximately 2% of the Caucasian population. Despite the established influence of several environmental factors, epidemiological data and twin studies have long demonstrated a genetic basis for psoriasis susceptibility. Moreover an association between PS and HLA-Cw6 has been reported in different ethnic groups. In recent years, the availability of statistical methods for complex disease linkage analysis has prompted many researchers to carry out genome-wide scans. Their results have been conflicting and linkage replication has seldom been documented. However, a few chromosome regions have been confirmed in independent studies. In particular, compelling evidence supports the existence of a susceptibility locus within the HLA region. Moreover, loci on chromosomes 17q and 1q have been reported in at least two independent genome scans. Several groups have undertaken the refinement of regions identified during genome scans, using linkage disequilibrium data. This approach has allowed the fine mapping of the 6p21 locus, now restricted to a 60-kb genomic segment. As critical regions get smaller, candidate gene analysis becomes an attractive approach. So far, three genes have been extensively investigated: S100A7 on chromosome 1q and CDSN and HCR on chromosome 6p21. Even though several SNPs have been identified within these genes, none of them seems to meet the requirement needed to prove an involvement in PS pathogenesis. These criteria include association replication in different populations and functional studies of SNP biological significance. Thus, only a collaborative and multidisciplinary approach will allow the identification of PS susceptibility genes.

Chromosome Mapping↗