How to Cite this Article: Thauvin-Robinet C, Drunat S, Saugier Veber P, Chantereau D, Cossée M, Cassini C, Soichot P, Masurel-Paulet A, De Monléon JV, Sagot P, Huet F, Antin M, Calmels N, Faivre L, Gérard B. 2012. Homozygous SMN1 exon 1–6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis. Am J Med Genet Part A. 158A:1735–1741.
Homozygous SMN1 exons 1–6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis†
Version of Record online: 7 JUN 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 7, pages 1735–1741, July 2012
How to Cite
Thauvin-Robinet, C., Drunat, S., Saugier Veber, P., Chantereau, D., Cossée, M., Cassini, C., Soichot, P., Masurel-Paulet, A., De Monléon, J.V., Sagot, P., Huet, F., Antin, M., Calmels, N., Faivre, L., Gérard, B. and le “réseau français de génétique moléculaire” (2012), Homozygous SMN1 exons 1–6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis. Am. J. Med. Genet., 158A: 1735–1741. doi: 10.1002/ajmg.a.35402
- Issue online: 18 JUN 2012
- Version of Record online: 7 JUN 2012
- Manuscript Accepted: 14 MAR 2012
- Manuscript Received: 24 JUN 2011
- spinal muscular atrophy;
- genetic counseling;
- deletion intron 6;
We report on a rare homozygous intragenic deletion encompassing exons 1–6 of the SMN1 gene in a patient with spinal muscular atrophy (SMA) born into a consanguineous family. This exceptional configuration induced misinterpretation of the molecular defect involved in this patient, who was first reported as having a classic SMN1 exon 7 deletion. This case points out the possible pitfalls in molecular diagnosis of SMA in affected patients and their relatives: exploration of the SMN1 exon 7 (c.840C/T alleles) may be disturbed by several non-pathological or pathological variants around the SMN1 exon 7. In order to accurately describe the molecular defect in an SMA-affected patient, we propose to apply the Human Genome Variation Society nomenclature. This widely accepted nomenclature would improve the reporting of the molecular defect observed in SMA patients and thus would avoid the commonly used but imprecise terminology “absence of SMN1 exon 7.” © 2012 Wiley Periodicals, Inc.