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. 2023 Sep 2;14(9):1753. doi: 10.3390/genes14091753

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© 2023 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

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(A) Pedigree of the family. Distant consanguinity of the proband’s parents (third cousins) is reported. The proband (II1) was a compound heterozygote for mutations HSPG2(NM_005529.7):c.3888 + 1G > A and HSPG2(NM_005529.7):c.8464G > A in the HSPG2 gene. The asymptomatic parents (I1 and I2) were carriers for one mutation of the offspring. (B,C) Electropherogram of the two identified mutations in all family members tested and their localization on a schematic representation of perlecan. (C) Figure was created using Biorender.com (Biorender, Toronto, ON, Canada; accessed on 1 September 2023). (D) The amino acid alignment around the novel splice site mutation c.3888 + 1G > A was evolutionally conserved across a variety of different species.