ArticleAmerican journal of human genetics1998
Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 25 citations in OpenAlex.
- Expanding 5q-SMA Newborn Screening in Latin America: A Brazilian Model for National and Regional Implementation.International journal of neonatal screening · 2026Article
- A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling.Human molecular genetics · 2025Article
- The Carrier Frequency of TwoGenes · 2023Article
- The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era.Genetics in medicine open · 2023Review
- Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients.Journal of human genetics · 2015Article
- Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family.Human genetics · 2011Article
- Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.American journal of human genetics · 1999Article
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
Abstract
Spinal muscular atrophy (SMA) is a common fatal motor-neuron disorder characterized by degeneration of the anterior horn cells of the spinal cord, which results in proximal muscle weakness. Three forms of the disease, exhibiting differing phenotypic severity, map to chromosome 5q13 in a region of unusually high genomic variability. The SMA-determining gene (SMN) is deleted or rearranged in patients with SMA of all levels of severity. A high de novo mutation rate has been estimated for SMA, based on the deletion of multicopy microsatellite markers. We present a type I SMA family in which a mutant SMA chromosome has undergone a second mutation event. Both the occurrence of three affected siblings harboring this same mutation in one generation of this family and the obligate-carrier status of their mother indicate the existence of maternal germ-line mosaicism for cells carrying the second mutation. The existence of secondary mutational events and of germ-line mosaicism has implications for the counseling of SMA families undergoing prenatal genetic analysis.
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