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Article

An approach to rapid characterization of DMD copy number variants for prenatal risk assessment.

American journal of medical genetics. Part A - 1 Aug 2021

Chin Hui-Lin, O'Neill Kieran, Louie Kristal, Brown Lindsay, Schlade-Bartusiak Kamilla, Eydoux Patrice, Rupps Rosemarie, Farahani Ali, Boerkoel Cornelius F, Jones Steven J M

Abstract excerpt

Prenatal detection of structural variants of uncertain significance, including copy number variants (CNV), challenges genetic counseling, and creates ambiguity for expectant parents. In Duchenne muscular dystrophy, variant classification and phenotypic severity of CNVs are currently assessed by familial segregation, prediction of the effect on the reading frame, and precedent data. Delineation of pathogenicity by...

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PMID: 34018669
DOI: 10.1002/ajmg.a.62349

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