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Article

Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis.

American journal of medical genetics. Part A - 1 Jul 2012

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22678974
DOI: 10.1002/ajmg.a.35402

Genes

SMN1

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