Figure Novel compound heterozygous mutation in the COLQ gene causes congenital myasthenic syndrome Novel compound heterozygous mutation in the COLQ gene.

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Date of download: 6/9/2016 Copyright © 2016 American Medical Association. All rights reserved. From: Molecular Analysis and Prenatal Prediction of Spinal.

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Figure Novel compound heterozygous mutation in the COLQ gene causes congenital myasthenic syndrome Novel compound heterozygous mutation in the COLQ gene causes congenital myasthenic syndrome (A) Pedigree of the proband (II-1). Point mutation (IVS16+3A→G) in the COLQ gene was inherited from the father (I-1), and multiexon deletion from the mother (I-2). (B) Gene list of 21 known congenital myasthenic syndrome (CMS) genes included in the targeted CMS panel. (C) Genome view of PatternCNV analysis shows decreased copy number variation (CNV) log2 ratio for the COLQ gene in chromosome 3. (D) Exon-level CNV summary table shows the start and end position of deletion (984 base pairs) in the COLQ gene, which indicates 1 copy deletion of exons 14 and 15. SNR.db: signal noise ratio expressed in decibels; CNV.ratio: copy number ratio converted from CNV.log2ratio. CNV.ratio of 1 indicates no copy number change. (E) TaqMan Copy Number Assay results confirm exon deletions in the COLQ gene in the proband, which is also found in her mother (data not shown). Longer PCR cycle number (X-axis) denotes 1 less copy after normalization using RNasP. Wei Wang et al. Neurol Genet 2016;2:e117 © 2016 American Academy of Neurology