Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 (ital) mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

Article Abstract:

Autosomal recessive proximal spinal muscular atrophy (SMA) patients who lack the most common mutation are difficult to diagnose and genetic counseling for them presents problems. The most common mutation is homozygous absence of at least exon 7 of the telomeric survival motor neuron gene (SMN1) (ital). Molecular genetic data have been assembled for 42 independent nondeleted SMA patients. Identification of subtle SMN1 (ital) mutations has been made in SMA patients. It appears that there are other genes, or a gene, responsible for about 4-5% of phenotypes not distinguishable from SMA. The validity of genotype-phenotype correlation was determined. There are implications for genetic counseling.

Abnormalities, Muscles, Motor neurons, Motor neuron disease

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Linkage of familial Hibernian fever to chromosome 12p13

Article Abstract:

Familial Hibernian fever (FHF) has been linked to chromosome 12p13. Only FHF among all autosomal dominant periodic fevers has been described as clinically distinct. It originally was identified in an Irish Scottish UK family. A genomewide search was carried out in two additions families, both Irish, all with similar clinical features. No genetic heterogeneity was found in the families. Other families of other backgrounds but with similar symptoms could be tested for the same markers.

United Kingdom

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Gene localization for an autosomal dominant familial periodic fever to 12p13

Article Abstract:

Gene localization at 12 p13 is reported for a family with a benign autosomal dominant familial periodic fever (FPF) syndrome in which recurrent fever associated with abdominal pain is seen. Clinical features are like those of familiar Hibernian fever and different from those of familial Mediterranean fever (FMF). The FPF episodes usually do not respond to colchicine and it is not associated with amyloidosis. A semiautomated genome search gave evidence of the linkage.

Australia, New Zealand, Medical genetics

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