High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2 Shikma Mordechai, Libe Gradstein, Annika Pasanen, Rivka Ofir, Khalil El Amour,

Slides:

Advertisements

Similar presentations

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

Advertisements

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.

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy Orly Agamy, Bruria Ben Zeev, Dorit Lev, Barak Marcus, Dina Fine,

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.

PRIMUS: Rapid Reconstruction of Pedigrees from Genome-wide Estimates of Identity by Descent Jeffrey Staples, Dandi Qiao, Michael H. Cho, Edwin K. Silverman,

The Trimmed-Haplotype Test for Linkage Disequilibrium

The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23

A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family Fatemeh Alasti, Abdorrahim Sadeghi, Mohammad Hossein Sanati,

Identification of a Major Susceptibility Locus for Restless Legs Syndrome on Chromosome 12q Alex Desautels, Gustavo Turecki, Jacques Montplaisir, Adolfo.

Transmission/Disequilibrium Tests for Extended Marker Haplotypes

Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder.

M. A. Escamilla, M. C. DeMille, E. Benavides, E. Roche, L. Almasy, S

A Novel Locus for Familial Amyotrophic Lateral Sclerosis, on Chromosome 18q Collette K. Hand, Jawad Khoris, François Salachas, François Gros-Louis, Ana.

Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity Kathrin Saar, Lihadh.

Genetic Linkage of Paget Disease of the Bone to Chromosome 18q

Meiotic Segregation Analysis of RB1 Alleles in Retinoblastoma Pedigrees by Use of Single-Sperm Typing Anne Girardet, Mary Sara McPeek, Esther P. Leeflang,

Localization of a Gene for Molybdenum Cofactor Deficiency, on the Short Arm of Chromosome 6, by Homozygosity Mapping Adel Shalata, Hanna Mandel, Jochen.

A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter– Tonz Syndrome Adi Mory, Efrat Dagan, Barbara Illi, Philippe Duquesnoy,

Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal-Growth-Factor–Like Domain.

PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy

Optimized Group Sequential Study Designs for Tests of Genetic Linkage and Association in Complex Diseases Inke R. König, Helmut Schäfer, Hans-Helge Müller,

2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1 Brendan Lee The American Journal of Human Genetics

The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23

Tamara Rogers, David Chandler, Dora Angelicheva, P. K

Use of Closely Related Affected Individuals for the Genetic Study of Complex Diseases in Founder Populations C. Bourgain, E. Génin, P. Holopainen, K.

Mapping of Primary Congenital Lymphedema to the 5q35.3 Region

Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic Syndrome Lihua Ying, Yitzhak Katz, Menachem Schlesinger,

A Gene for Arthrogryposis Multiplex Congenita Neuropathic Type Is Linked to D5S394 on Chromosome 5qter Mordechai Shohat, Rona Lotan, Nurit Magal, Tamar.

Laurent Gouya Journal of Investigative Dermatology

Howard B. Yeon, Noralane M. Lindor, J.G. Seidman, Christine E. Seidman

Tristan F. W. McMullan, Andrew R. Collins, Anthony G. Tyers, David O

Per M. Knappskog, Jacek Majewski, Avi Livneh, Per Torgeir E

Guofang Hu, Meltem Önder, Melissa Gill, Burhan Aksakal, Murat Öztas, M

A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24 C. Kok, M.L. Kennerson, P.J. Spring, A.J. Ing,

A Novel Locus for Familial Amyotrophic Lateral Sclerosis, on Chromosome 18q Collette K. Hand, Jawad Khoris, François Salachas, François Gros-Louis, Ana.

Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ Ortal Barel, Zamir Shorer, Hagit Flusser, Rivka Ofir, Ginat Narkis,

Mapping of Charcot-Marie-Tooth Disease Type 1C to Chromosome 16p Identifies a Novel Locus for Demyelinating Neuropathies Valerie A. Street, Jeff D. Goldy,

Claus Skaanning Jensen, Augustine Kong

Dan-Yu Lin, Zheng-Zheng Tang The American Journal of Human Genetics

Koji Suzuki, Tania Bustos, Richard A. Spritz

Erratum The American Journal of Human Genetics

Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in PIP5K1C, Which Encodes PIPKIγ of the Phophatidylinsitol Pathway Ginat Narkis,

Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a.

John A. Martignetti, Karen E

A Severely Affected Male Born into a Rett Syndrome Kindred Supports X-Linked Inheritance and Allows Extension of the Exclusion Map Carolyn Schanen, Uta.

Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11.

Dominique J. Verlaan, Adrian M. Siegel, Guy A. Rouleau

Recurrence of Marfan Syndrome as a Result of Parental Germ-Line Mosaicism for an FBN1 Mutation Terhi Rantamäki, Ilkka Kaitila, Ann-Christine Syvänen,

Meiotic Microdeletion Breakpoints in the BRCA1 Gene Are Significantly Associated with Symmetric DNA-Sequence Elements Beatrice Schmucker, Michael Krawczak

Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII Maya Feldshtein, Suliman Elkrinawi, Baruch Yerushalmi, Barak.

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy Orly Agamy, Bruria Ben Zeev, Dorit Lev, Barak Marcus, Dina.

Molecular and Clinical Study of 18 Families with ADCA Type II: Evidence for Genetic Heterogeneity and De Novo Mutation P. Giunti, G. Stevanin, P.F. Worth,

Identification of Recurrent Mutations in the ARS (Component B) Gene Encoding SLURP-1 in Two Families with Mal de Meleda Kimberley Morine Ward, Jülide.

Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3 Abdul Noor, Christian Windpassinger, Irina Vitcu, Marija.

Mutation Analysis of UBE3A in Angelman Syndrome Patients

Arun Kumar, Satish C. Girimaji, Mahesh R. Duvvari, Susan H. Blanton

Emma L. Williams, PhD, Markus J. Kemper, MD, Gill Rumsby, PhD, FRCPath

Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree Heymut Omran, Carmen Fernandez,

Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C Hila Romi, Idan Cohen, Daniella Landau, Suliman Alkrinawi,

A New Familial Amyotrophic Lateral Sclerosis Locus on Chromosome 16q12

Regie Lyn P. Santos-Cortez, Rabia Faridi, Atteeq U

Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity Kathrin Saar, Lihadh.

Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3) Annie P. Chiang, Darryl Nishimura,

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia Simon Edvardson, Hiroko Hama,

A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13 I.A. Meijer, C.K. Hand, K.K. Grewal, M.G. Stefanelli, E.J. Ives,

Mapping of a New SGBS Locus to Chromosome Xp22 in a Family with a Severe Form of Simpson-Golabi-Behmel Syndrome L.M. Brzustowicz, S. Farrell, M.B. Khan,

Genetic Analysis of Families with Parkinson Disease that Carry the Ala53Thr Mutation in the Gene Encoding α-Synuclein Aglaia Athanassiadou, Gerassimos.

Presentation transcript:

High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2 Shikma Mordechai, Libe Gradstein, Annika Pasanen, Rivka Ofir, Khalil El Amour, Jaime Levy, Nadav Belfair, Tova Lifshitz, Sara Joshua, Ginat Narkis, Khalil Elbedour, Johanna Myllyharju, Ohad S. Birk The American Journal of Human Genetics Volume 89, Issue 3, Pages 438-445 (September 2011) DOI: 10.1016/j.ajhg.2011.08.003 Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree of Affected Israeli-Bedouin Kindred Solid and open symbols represent affected and unaffected individuals, respectively. M numbers denote individuals whose DNA samples were analyzed. Because of the complexity of the pedigree, some individuals (M3, M5, M7, M19, M20, M21, M23, and M31) are drawn twice, with the same M number. The American Journal of Human Genetics 2011 89, 438-445DOI: (10.1016/j.ajhg.2011.08.003) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Figure 2 Defining the Disease-Associated Locus A partial pedigree of the large Israeli-Bedouin kindred is shown. The disease-associated haplotype is boxed. The minimal homozygosity locus associated with the disease is defined between the markers D3S3530 and D3S2455. Individuals are given the same M numbers as in Figure 1 and Table 1. The American Journal of Human Genetics 2011 89, 438-445DOI: (10.1016/j.ajhg.2011.08.003) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Figure 3 Analysis of the c.1523G>T (p.Gly508Val) Mutation in Exon 10 of LEPREL1 Sequence analysis is shown for an affected individual (A), an obligatory carrier (B), and an unaffected individual (C). The glycine at position 508 of LEPREL1 is conserved throughout evolution (D). (E) Changes in secondary structure as a result of the valine-to-glycine substitution. The American Journal of Human Genetics 2011 89, 438-445DOI: (10.1016/j.ajhg.2011.08.003) Copyright © 2011 The American Society of Human Genetics Terms and Conditions