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Article

Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy.

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

Marchionni Enrica, Agolini Emanuele, Mastromoro Gioia, Guadagnolo Daniele, Coppola Giulia, Roggini Mario, Riminucci Mara, Novelli Antonio, Giancotti Antonella, Corsi Alessandro, Pizzuti Antonio

Abstract excerpt

BICD2 (BICD Cargo Adaptor 2, MIM*609797) mutations are associated with severe prenatal-onset forms of spinal muscular atrophy, lower extremity-predominant 2B (SMALED2B MIM 618291) or milder forms with childhood-onset (SMALED2A MIM 615290). Etiopathogenesis is not fully clarified and a wide spectrum of phenotypic presentations is reported, ranging from extreme prenatal forms with adverse outcome, to slow...

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PMID: 33547725
DOI: 10.1002/ajmg.a.62111

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