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. 2020 Nov 30;11:6087. doi: 10.1038/s41467-020-19919-y

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — a Midline sagittal (top), coronal (middle), and axial (bottom) brain MRIs of control and patients from families CerID-30, CerID-11, CerID-09, and TR-PCH-01, respectively. Only sagittal (top) and coronal (middle) brain MRIs were available for the patient from the family PCH-2712 and sagittal brain MRI for the patients from PCH-2456 (top and middle). Sagittal MRIs show variable degree of brainstem (arrow) and cerebellar atrophy/hypoplasia (arrowhead). b Schematic representation of the MINPP1 transcripts: NM_004897.5, NM_001178117.1, and NM_001178118.1, respectively. Exon numbers for the longest isoform NM_004897.5 are indicated above the schematic representation. Mutations are shown relative to their cDNA (NM_004897.5) position. c Multiple-sequence alignment of MINPP1 from different species. Variant amino-acid residues p.Y53, p.F228, p.R401, and p.E486 are evolutionarily conserved. d Linear schematic representation of MINPP1, showing the position of mutations with respect to predicted protein domains. Endoplasmic reticulum (ER).