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Case report: birth after preimplantation genetic diagnosis of a subtle mutation in SMN1 gene.

Prenatal diagnosis - 1 Nov 2006

Moutou Céline, Machev Nadejda, Gardes Nathalie, Viville Stéphane

Abstract excerpt

Spinal muscular atrophy (SMA) preimplantation genetic diagnosis (PGD) has been available since 1998. Protocols are based on the detection of the homozygous deletion of exon 7, which are present in 90-98% of SMA patients. A couple where the woman was a heterozygous carrier of the usual SMN1 Del7 mutation and the man was a heterozygous carrier of pMet263Arg substitution in exon 6 of SMN1 gene was referred for PGD....

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Source

Identifiers

PMID: 16941715
DOI: 10.1002/pd.1551

Genes

PGD
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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