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Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation  Asif.

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Presentation on theme: "Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation  Asif."— Presentation transcript:

1 Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation  Asif Mir, Liana Kaufman, Abdul Noor, Mahdi M. Motazacker, Talal Jamil, Matloob Azam, Kimia Kahrizi, Muhammad Arshad Rafiq, Rosanna Weksberg, Tanveer Nasr, Farooq Naeem, Andreas Tzschach, Andreas W. Kuss, Gisele E. Ishak, Dan Doherty, H. Hilger Ropers, A. James Barkovich, Hossein Najmabadi, Muhammad Ayub, John B. Vincent  The American Journal of Human Genetics  Volume 85, Issue 6, Pages (December 2009) DOI: /j.ajhg Copyright © 2009 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigrees of Families and MRI Images
(A) Pedigree and MRI images for family MR-2019 are shown in (A–E). Pedigree for MR-2019 (A): affected individuals are connected by loops of consanguinity over five generations. (B) MRI image from female affected V:9: sagittal T1-weighted image showing thin corpus callosum and a small cerebellar vermis with prominent folia. The brain stem is also diffusely thin. (C) MRI image from female affected V:8: coronal T2-weighted image showing enlarged CSF spaces, suggesting cortical volume loss. (D) MRI images from female affected V:9: axial T2-weighted image showing areas of T2 hyperintensity in subcortical white matter (arrowhead), enlarged sulci, and reduced white matter volume compatible with mildly diminished cerebral cortical and white matter volume. (E) Pedigree for M001: affected individuals are connected by loops of consanguinity over five generations. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Disease Locus and TRAPPC9 Mutation
(A) Shared homozygous region in Family MR-2019 on chromosome 8q24.23–q24.3. (B) Electropherograms for MR-2019 indicate the sequence change in exon 7, with wild-type, heterozygous carrier, and homozygous affected, leading to the amino acid change: Arginine 475 Stop. (C) Electropherograms for M001 indicate a four base pair deletion in exon 14, resulting in a frameshift mutation that leads to the mutation p.Leu772TrpfsX7 and truncates the protein at residue 779. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

4 Figure 3 qPCR Assay of TRAPPC9 mRNA
Quantitative measurement of TRAPPC9 mRNA from lymphoblasts, measured using real-time PCR. The level of expression between individuals carrying a mutation in TRAPPC9 and those with the wild-type gene is clearly different, suggesting nonsense-mediated mRNA decay associated with the mutation. Subjects C1 and C2 are age- and sex-matched healthy controls. Affected individuals are V:7 and V:3. mRNA levels were normalized against the housekeeping gene HPRT1. Error bars indicate maximum and minimum values. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

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