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. 2023 Sep 26;17:1259380. doi: 10.3389/fncel.2023.1259380

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Copyright © 2023 Li, Perera, Varghese, Shiloh-Malawsky, Hunter, Sneddon, Powell, Matera and Fan.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Parental and proband SMN1 genotypes. The father (blue) has two copies of SMN1 without the c.796T>C variant or the g.27134T>G polymorphism (1+1 or 2+0). The mother (orange) has a cis-oriented SMN1 duplication with the homozygous c.796T>C variant (marked by “*”) on one allele and a wild-type SMN1 on the other allele (2*+1). The proband has a cis-oriented SMN1 duplication with the homozygous c.796T>C variant on one allele and a null SMN1 on the other allele (2*+0). The proband’s null SMN1 on the paternal chromosome was presumed to have arisen from a de novo deletion. Alternatively, the father may also be a 2+0 carrier, but is without the g.27134T>G polymorphism.