Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family

American Journal of Human Genetics
L CampbellK Davies

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.

References

Mar 1, 1992·Journal of Medical Genetics·R J DanielsV Dubowitz
Jan 1, 1995·Neuromuscular Disorders : NMD·V Dubowitz
Apr 25, 1995·Proceedings of the National Academy of Sciences of the United States of America·S SeligL M Kunkel
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Citations

Jul 13, 2002·Muscle & Nerve·Sophie NicoleJudith Melki
Mar 30, 2007·European Journal of Human Genetics : EJHG·Melanie SmithDesirée du Sart
Aug 28, 2015·Journal of Human Genetics·Miloš BrkušaninDušanka Savić-Pavićević
Jun 27, 2006·Neuromuscular Disorders : NMD·P B KangB T Darras
Jun 22, 2017·Expert Review of Proteomics·Seyyedmohsen HosseinibarkooieBrunhilde Wirth
Jul 21, 2001·European Journal of Human Genetics : EJHG·H SchefferB Wirth
Dec 9, 2004·European Journal of Human Genetics : EJHG·Thomas EggermannSabine Rudnik-Schöneborn
Sep 13, 2001·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·R V LeboJ M Milunsky

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