Presentation is loading. Please wait.

Presentation is loading. Please wait.

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage  Katherine R. Smith, John Damiano, Silvana Franceschetti,

Published byJoão Batista Amado Modified over 5 years ago

Similar presentations

Presentation on theme: "Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage  Katherine R. Smith, John Damiano, Silvana Franceschetti,"— Presentation transcript:

1 Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage 
Katherine R. Smith, John Damiano, Silvana Franceschetti, Stirling Carpenter, Laura Canafoglia, Michela Morbin, Giacomina Rossi, Davide Pareyson, Sara E. Mole, John F. Staropoli, Katherine B. Sims, Jada Lewis, Wen-Lang Lin, Dennis W. Dickson, Hans-Henrik Dahl, Melanie Bahlo, Samuel F. Berkovic  The American Journal of Human Genetics  Volume 90, Issue 6, Pages (June 2012) DOI: /j.ajhg Copyright © 2012 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Family Pedigree and Clinical Features of NCL in Proband
(A) Pedigree of family (arrow indicates proband) indicating mutation status for GRN (c.813_816del). Plasma progranulin values are shown in red (ng/ml; median normal value is 126 ng/ml). (B) Retinal photograph of proband showing optic atrophy, arteriolar attenuation, and irregular retinal pigmentation. (C) Electron micrograph of skin biopsy from the proband. Typical fingerprint profiles within a membrane-bound structure in an eccrine pale cell are shown. The bar indicates 100 nm. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Results of Linkage Analysis
Autosomal genome-wide LOD scores, adjusted for inbreeding, for the family under a fully penetrant recessive genetic model. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

4 Figure 3 NCL Pathology in Progranulin-Deficient Mice
Electron micrograph showing a high-power view of one of the storage granules in a neuron from the habenula of a Grn−/− mouse. The pattern corresponds to the rectilinear complex, which, along with fingerprint profiles, is characteristic of most types of NCL. The arrow points to a pentalaminar profile. The bar indicates 100 nm. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Download ppt "Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage  Katherine R. Smith, John Damiano, Silvana Franceschetti,"

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.
Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.

Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.
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.
A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications Veronica J. Vieland, Yungui Huang, Christopher.

A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications Veronica J. Vieland, Yungui Huang, Christopher.
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,

Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.
Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome Lisa G. Riley,

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome Lisa G. Riley,
Enterococcus faecalis Induces Inflammatory Bowel Disease in Interleukin-10 Knockout Mice Edward Balish, Thomas Warner The American Journal of Pathology.

Enterococcus faecalis Induces Inflammatory Bowel Disease in Interleukin-10 Knockout Mice Edward Balish, Thomas Warner The American Journal of Pathology.
Transgenic Mice Overexpressing BMP4 Develop a Fibrodysplasia Ossificans Progressiva (FOP)-Like Phenotype Lixin Kan, Min Hu, William A. Gomes, John A. Kessler.

Transgenic Mice Overexpressing BMP4 Develop a Fibrodysplasia Ossificans Progressiva (FOP)-Like Phenotype Lixin Kan, Min Hu, William A. Gomes, John A. Kessler.
Copyright © 1999 American Medical Association. All rights reserved.

Copyright © 1999 American Medical Association. All rights reserved.
Human Pedigree-Based Quantitative-Trait–Locus Mapping: Localization of Two Genes Influencing HDL-Cholesterol Metabolism  Laura Almasy, James E. Hixson,

Human Pedigree-Based Quantitative-Trait–Locus Mapping: Localization of Two Genes Influencing HDL-Cholesterol Metabolism  Laura Almasy, James E. Hixson,
Identification of a Major Susceptibility Locus for Restless Legs Syndrome on Chromosome 12q  Alex Desautels, Gustavo Turecki, Jacques Montplaisir, Adolfo.

Identification of a Major Susceptibility Locus for Restless Legs Syndrome on Chromosome 12q  Alex Desautels, Gustavo Turecki, Jacques Montplaisir, Adolfo.
Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder.

Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder.
The Importance of Genealogy in Determining Genetic Associations with Complex Traits  Dina L. Newman, Mark Abney, Mary Sara McPeek, Carole Ober, Nancy J.

The Importance of Genealogy in Determining Genetic Associations with Complex Traits  Dina L. Newman, Mark Abney, Mary Sara McPeek, Carole Ober, Nancy J.
Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia.

Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia.
Volume 199, Issue 1, Pages (January 2018)

Volume 199, Issue 1, Pages (January 2018)
Exome Sequencing in Brown-Vialetto-Van Laere Syndrome

Exome Sequencing in Brown-Vialetto-Van Laere Syndrome
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome
Model-Free Linkage Analysis with Covariates Confirms Linkage of Prostate Cancer to Chromosomes 1 and 4  Katrina A.B. Goddard, John S. Witte, Brian K.

Model-Free Linkage Analysis with Covariates Confirms Linkage of Prostate Cancer to Chromosomes 1 and 4  Katrina A.B. Goddard, John S. Witte, Brian K.
Frances Busfield, David L. Duffy, Janine B. Kesting, Shelley M

Frances Busfield, David L. Duffy, Janine B. Kesting, Shelley M

Similar presentations

Ads by Google