Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy
| Autor: | R. R. Trifiletti, Lorenzo Pavone, Enrico Parano, Raffaele Falsaperla, Ching Wang |
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| Rok vydání: | 1996 |
| Předmět: |
Male
Pathology medicine.medical_specialty Locus (genetics) Spinal Muscular Atrophies of Childhood Biology Polymerase Chain Reaction Central nervous system disease Degenerative disease Genotype medicine Humans Family Sibling Alleles Genetics Polymorphism Genetic Electromyography Genetic heterogeneity Genetic Variation Spinal muscular atrophy Motor neuron medicine.disease Phenotype medicine.anatomical_structure Neurology Child Preschool Female Neurology (clinical) Gene Deletion |
| Zdroj: | Annals of Neurology. 40:247-251 |
| ISSN: | 1531-8249 0364-5134 |
| DOI: | 10.1002/ana.410400219 |
| Popis: | We report on a family with childhood-onset spinal muscular atrophy with intrafamilial phenotypic variation. Typical of a large majority of such patients, both the child with spinal muscular atrophy type I and the child with type II were missing both copies of the survival motor neuron telomeric gene (SMN(T)). The more severely affected child, however, showed genotypic evidence consistent with the de novo loss of DNA sequence in addition to that inherited by both affected children. These data suggest that the intrafamilial phenotypic variation in this family results from a new mutation event in the more severely affected child. Examples of intrafamilial phenotypic variability are quite rare, but some reports exist in the spinal muscular atrophy literature. We present evidence that one explanation for this phenomenon is the occurrence of de novo deletion events at the highly unstable disease locus. |
| Databáze: | OpenAIRE |
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