Presentation is loading. Please wait.

Presentation is loading. Please wait.

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy  Martine Tétreault, Karine.

Published byJean-Claude Desjardins Modified over 5 years ago

Similar presentations

Presentation on theme: "Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy  Martine Tétreault, Karine."— Presentation transcript:

1 Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy  Martine Tétreault, Karine Choquet, Simona Orcesi, Davide Tonduti, Umberto Balottin, Martin Teichmann, Sébastien Fribourg, Raphael Schiffmann, Bernard Brais, Adeline Vanderver, Geneviève Bernard  The American Journal of Human Genetics  Volume 89, Issue 5, Pages (November 2011) DOI: /j.ajhg Copyright © 2011 The American Society of Human Genetics Terms and Conditions

2 Figure 1 POLR3B Mutations
(A) Genomic sequence chromatograms and amino acid conservation across species is shown for all missense and nonsense POLR3B mutations. Individual 1 is compound heterozygote for mutations c.1508C>A and c.1568T>A; individual 2 is compound heterozygote for mutations c.1533delT and c.1568T>A, and individual 3 is compound heterozygote for mutations c.1568T>A and c.2686A>T. The amino acid conservation across species is shown for all mutations. The following abbreviations are used: D. melanogaster, Drosophila melanogaster; D. rerio, Danio rerio; H. sapiens, Homo sapiens; M. musculus, Mus musculus; S. cerevisiae, Saccharomyces cerevisiae. (B) 3D representations of POLR3B missense, deletion (frameshift), and nonsense mutations. Point mutations identified in POLR3B are displayed according to their equivalent positions in the yeast RNA Polymerase II RPB2 subunit.24 Numbers in brackets refer to the positions in yeast RPB2. Images have been generated with PyMol software (Schrödinger). RPB1 is shown in blue, RPB2 in green, RPB7 in brown, RPB4 in pink, RPB8 in orange, and RPB11 in magenta. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Teeth Abnormalities
(A and B) The teeth abnormalities seen in individual 1: unspecified age at tooth eruption and the absence of permanent mandibular second premolars with abnormal shape of the permanent maxillary central and lateral incisors. (C and D) The teeth abnormalities of individual 2: delayed tooth eruption with complete retention of the primary maxillary central incisors and the mandibular lateral incisors. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

4 Figure 3 MRI Characteristics
(A, D, and G) Sagittal T1-weighted images of the brain for individuals 1 (A), 2 (D), and 3 (G) at the level of the midline demonstrating the thin corpus callosum and vermian cerebellar atrophy (thick white arrows). (B, E, and H) Axial T2-weighted images of the brain for individuals 1 (B), 2 (E), and 3 (H) at the level of the pons and the dentate nucleus demonstrating a mild T2 hyperintensity of the cerebellar white matter associated with the typical hypointensity of the dentate nucleus (small white arrows).19 (C, F, and I) Axial T2-weighted images of the brain for individuals 1 (C), 2 (F), and 3 (I) at the level of the basal ganglia showing the mild hyperintense white matter characteristic of hypomyelination; there is relative sparing of the optic radiations and anterolateral nucleus of the thalamus (small black arrows), which appear hypointense.19 The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Download ppt "Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy  Martine Tétreault, Karine."

Similar presentations

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly  Julie Jerber, Maha S. Zaki, Jumana.

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly  Julie Jerber, Maha S. Zaki, Jumana.
Figure 1 . Brain MRI (T1 axial image post gadolinium) showing mass-like heterogeneous enhancement involving the right caudate nucleus.

Figure 1 . Brain MRI (T1 axial image post gadolinium) showing mass-like heterogeneous enhancement involving the right caudate nucleus.
A 9 year old boy with slowly progressive spastic ataxic syndrome

A 9 year old boy with slowly progressive spastic ataxic syndrome
Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal- Recessive Nonsyndromic Hearing Impairment  Margit Schraders, Kwanghyuk Lee, Jaap.

Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal- Recessive Nonsyndromic Hearing Impairment  Margit Schraders, Kwanghyuk Lee, Jaap.
Young Adult Male in a Coma

Young Adult Male in a Coma
Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta  Walid El-Sayed, David A. Parry, Roger C. Shore,

Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta  Walid El-Sayed, David A. Parry, Roger C. Shore,
Figure Cerebral MRI and molecular and enzymatic analysis

Figure Cerebral MRI and molecular and enzymatic analysis
Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism- Susceptibility Gene  Maricela Alarcón, Brett S. Abrahams, Jennifer L.

Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism- Susceptibility Gene  Maricela Alarcón, Brett S. Abrahams, Jennifer L.
Tracy Dixon-Salazar, Jennifer L. Silhavy, Sarah E. Marsh, Carrie M

Tracy Dixon-Salazar, Jennifer L. Silhavy, Sarah E. Marsh, Carrie M
Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus with Cataract  Anne E. Hughes, Declan T. Bradley, Malcolm Campbell, Judith Lechner,

Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus with Cataract  Anne E. Hughes, Declan T. Bradley, Malcolm Campbell, Judith Lechner,
Dibbendhu Khanra, Arunansu Talukdar 

Dibbendhu Khanra, Arunansu Talukdar 
Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man  Karin Tuschl,

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man  Karin Tuschl,
Functional Consequences of PRODH Missense Mutations

Functional Consequences of PRODH Missense Mutations
Figure 1. MRI features of AP5Z1-associated complicated spastic paraplegia MRI features of AP5Z1-associated complicated spastic paraplegia (A) Periventricular.

Figure 1. MRI features of AP5Z1-associated complicated spastic paraplegia MRI features of AP5Z1-associated complicated spastic paraplegia (A) Periventricular.
Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity  Ryan J. Taft, Adeline Vanderver, Richard J. Leventer,

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity  Ryan J. Taft, Adeline Vanderver, Richard J. Leventer,
A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum 

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum 
Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus  F.

Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus  F.
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

Similar presentations

Ads by Google