Data from: PCNT point mutations and familial intracranial aneurysms

Lorenzo-Betancor O, Blackburn PR, Edwards E, Vázquez-do-Campo R, Klee EW, Labbé C, Hodges K, Glover P, Sigafoos AN, Soto AI, Walton RL, Doxsey S, Bober MB, Jennings S, Clark KJ, Asmann Y, Miller D, Freeman WD, Meschia J, Ross OA

Date Published: December 7, 2018

DOI: https://doi.org/10.5061/dryad.8br9852

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Title PCNT and familial intracranial aneurysms-Supplemental data
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Description (1) Detailed clinical description of additional PCNT mutation carriers (Text). (2) Supplementary Table 1. Fifty five variants were shared between the two patients from family 7042 and absent in the healthy individuals from this family. (3) Supplementary Table 2. Family 7019. Variants present in patients III.2 and III.4 not carried by healthy individuals IV.1 and IV.2 from family 7019. (4) Supplementary Table 3. PCNT exon 38 primers. (5) Supplementary Table 4. Microsatellites primers used for the haplotype sharing analysis in families 7019 and 8159; * = sizes based on the microsatellite analysis of 80 Caucasian samples. (6) Supplementary Table 5. Demographic data of the samples used to estimate the allele frequency of customized PCNT microsatellite. (7) Supplementary Table 6. Mean read depth (coverage) for the entire PCNT gene and for exon 38 for each individual with Whole Exome Sequencing data. (8) Supplementary Table 7. Sixty three variants were shared between the two patients from family 7042 and present also in the healthy individuals from this family. (9) Supplementary Table 8. Sixty three variants were shared between the two patients from family 7019 and present also in the healthy individuals from this family. (10) Supplementary Table 9. Family 7099 PCNT variants with MAF <1%. (11) Supplementary Figure 1. Patient 7019 III.2 CTA. (12) Supplementary Figure 2. Patient 7042 II.1 radiologic studies. (13) Supplementary Figure 3. Patient 7099 II.2 radiologic studies. (14) Supplementary Figure 4. Patient 8080 II.2 radiologic studies. (15) Supplementary Figure 5. Patient 8091 III.1 radiologic studies. (16) Supplementary Figure 6. Patient 8159 III.3 CTA. (17) Supplementary Figure 7. Haplotype reconstruction for families 7019 and 8159 sharing mutation p.Val2821Leu. (18) Supplementary Figure 8. Coding isoforms and processed transcripts of PCNT gene. (19) Supplementary Figure 9. Phylogenetic tree depicting evolutionary relationship of PCNT gene across species. (20) Supplementary Figure 10. A. PCNT gene conservation.
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When using this data, please cite the original publication:

Lorenzo-Betancor O, Blackburn PR, Edwards E, Vázquez-do-Campo R, Klee EW, Labbé C, Hodges K, Glover P, Sigafoos AN, Soto AI, Walton RL, Doxsey S, Bober MB, Jennings S, Clark KJ, Asmann Y, Miller D, Freeman WD, Meschia J, Ross OA (2018) PCNT point mutations and familial intracranial aneurysms. Neurology 91(23): e2170-e2181. https://doi.org/10.1212/wnl.0000000000006614

Additionally, please cite the Dryad data package:

Lorenzo-Betancor O, Blackburn PR, Edwards E, Vázquez-do-Campo R, Klee EW, Labbé C, Hodges K, Glover P, Sigafoos AN, Soto AI, Walton RL, Doxsey S, Bober MB, Jennings S, Clark KJ, Asmann Y, Miller D, Freeman WD, Meschia J, Ross OA (2018) Data from: PCNT point mutations and familial intracranial aneurysms. Dryad Digital Repository. https://doi.org/10.5061/dryad.8br9852
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