Isabelle Perrault, Fadi F

Slides:

Advertisements

Similar presentations

ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia Lucas Fares-Taie, Sylvie Gerber, Nicolas Chassaing, Jill Clayton-Smith, Sylvain Hanein,

Advertisements

Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness Isabelle Perrault, Fadi F. Hamdan, Marlène Rio, José-Mario Capo-Chichi,

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations Isabelle Perrault, Sophie Saunier, Sylvain Hanein, Emilie Filhol, Albane A. Bizet,

De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment Fadi F. Hamdan, Hussein Daoud, Daniel Rochefort, Amélie.

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.

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.

The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1 Dan Hanson, Philip G. Murray, Amit Sud, Samia A.

Ilse Feenstra, Lisenka E. L. M. Vissers, Ronald J. E

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, Bertrand Roquelaure,

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta Pablo Lapunzina, Mona Aglan, Samia Temtamy, José.

Tracy Dixon-Salazar, Jennifer L. Silhavy, Sarah E. Marsh, Carrie M

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

Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis Caroline Michot, Carine Le Goff, Alice Goldenberg, Avinash Abhyankar, Céline.

A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family Karel.

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

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly Julie Jerber, Maha S. Zaki, Jumana.

A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31

Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis Isabelle Perrault, Sylvain Hanein, Sylvie Gerber, Fabienne Barbet, Dominique.

Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition Anna Richards, Mark R. Buddles,

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females Jennifer M. Bain, Megan T. Cho, Aida Telegrafi,

A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy Jessica X. Chong,

A–C, Case 1. A–C, Case 1. Typical white matter changes involving the corpus callosum and the pyramidal tracts (A and C, arrows), dilation of the lateral.

XMCPDT Does Have Correct Type I Error Rates

Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy.

Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene Stephen R.F. Twigg, Sarah L.

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly Ganeshwaran H. Mochida, Muhammad.

Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis Caroline Michot, Carine Le Goff, Alice Goldenberg, Avinash Abhyankar, Céline.

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 Myriam Srour, Fadi F. Hamdan, Dianalee McKnight, Erica Davis, Hanna Mandel,

DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal- Dominant Robinow Syndrome Janson White, Juliana F. Mazzeu, Alexander Hoischen,

John R. Mehall, MD, James L. Leach, MD, Walter H. Merrill, MD

A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia John C. van Swieten, Esther Brusse, Bianca M.

De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly Yuriko Yoneda, Kazuhiro Haginoya, Hiroshi Arai,

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy Marisa I. Mendes, Mariana.

Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4 Jose Bras, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent, Tatiana.

Simon Edvardson, Claudia M. Nicolae, Pankaj B

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria Jennifer J. Johnston, Andrea L. Gropman,

Fatema Zahrani, Mohammed A. Aldahmesh, Muneera J. Alshammari, Selwa A

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures Xiaochang.

Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features Emma Tham, Anna Lindstrand, Avni Santani, Helena Malmgren,

Erratum The American Journal of Human Genetics

Figure Genetic deletion and MRI changes with EHMT1 deletion

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

Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia Michael A. Simpson, Harold Cross,

Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears Christopher T. Gordon, Florence Petit, Peter M.

De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea Fan Xia, Matthew N. Bainbridge,

The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1 Dan Hanson, Philip G. Murray, Amit Sud, Samia A.

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,

X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family Frédéric Laumonnier, Frédérique.

Autosomal-Dominant Striatal Degeneration Is Caused by a Mutation in the Phosphodiesterase 8B Gene Silke Appenzeller, Anja Schirmacher, Hartmut Halfter,

Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation Diana Rodriguez, Fernande Gauthier, Enrico Bertini, Marianna.

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy Tamar.

Tracy Dixon-Salazar, Jennifer L. Silhavy, Sarah E. Marsh, Carrie M

Figure 4 Unspecific MRI findings and facial dysmorphy in patients with germline variants Unspecific MRI findings and facial dysmorphy in patients with.

Figure 2 Brain MRI at 1 year of age

Serial imaging of a child with a clinical complex of bilateral facial PWS, early-onset severe seizures, and fatally progressive encephalopathy. Serial.

Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver.

BRCA1 and BRCA2 Testing: Weighing the Demand against the Benefits

Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas Qilin Zhang, Cheng Peng,

Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction Margit Schraders,

Figure 2 Compound heterozygous mutations in ADAM22

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy Hanan E. Shamseldin,

On the Etruscan Mitochondrial DNA Contribution to Modern Humans

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

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly Ganeshwaran H. Mochida, Muhammad.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal.

Presentation transcript:

Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness Isabelle Perrault, Fadi F. Hamdan, Marlène Rio, José-Mario Capo-Chichi, Nathalie Boddaert, Jean-Claude Décarie, Bruno Maranda, Rima Nabbout, Michel Sylvain, Anne Lortie, Philippe P. Roux, Elsa Rossignol, Xavier Gérard, Giulia Barcia, Patrick Berquin, Arnold Munnich, Guy A. Rouleau, Josseline Kaplan, Jean-Michel Rozet, Jacques L. Michaud The American Journal of Human Genetics Volume 94, Issue 6, Pages 891-897 (June 2014) DOI: 10.1016/j.ajhg.2014.04.012 Copyright © 2014 The American Society of Human Genetics Terms and Conditions

Figure 1 Pictures of Individuals with Mutations in DOCK7 Frontal and profile photos of the faces of affected individuals from families A (A-1 and A-2) and B (B-1). These individuals display similar dysmorphic features, including a low anterior hairline, periorbital fullness, telecanthus, a broad nasal tip, and anteverted nares. The American Journal of Human Genetics 2014 94, 891-897DOI: (10.1016/j.ajhg.2014.04.012) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

Figure 2 Brain MRI of Individuals with Mutations in DOCK7 MRI was performed at 2 years of age in individuals A-1 (A, D, and G) and B-1 (B, E, H, J, and L) and a control individual who was also matched for sex (C, F, I, K, and M) by means of the following modalities: axial T2 (A, J, and K), axial T1 (B, C, L, and M), sagittal T1 (D–F), coronal T2 (G), and coronal FLAIR (H and I). (A–F) Abnormally marked pontobulbar sulcus (white arrows) and mild pontine hypoplasia in individuals A-1 (A and D) and B-1 (B and E). See the control individual in (C) and (F) for comparison. (G–K) Hypersignal and atrophy in the occipital cortex (white arrows), including in the regions lining the calcarine sulcus, in individual A-1 (G). See the control individual in (I) and (K) for comparison. (L and M) Dedifferentiation of the occipital cortex and white matter with a sequellae aspect in individual B-1 (L). See the control individual in (M) for comparison. The American Journal of Human Genetics 2014 94, 891-897DOI: (10.1016/j.ajhg.2014.04.012) Copyright © 2014 The American Society of Human Genetics Terms and Conditions

Figure 3 Truncating Mutations in DOCK7 in Individuals with EE and Cortical Blindness (A) Pedigrees of the two families affected by DOCK7 mutations and chromatograms of these mutations. (B) A schematic of DOCK7 (2,129 amino acids) shows its DOCK homology domains, DHR-1 (amino acids 516–727) and DHR-2 (amino acids 1,668–2,110), as well as the TACC3-binding region (T-b) and the relative amino acid positions of the identified alterations. Nucleotide and amino acid positions are based on RefSeq NM _001271999.1 and NP_001258928.1, respectively. Locations of the DHR-1 and DHR-2 domains are based on DOCK7 UniProt prediction (accession number Q96NS7, isoform 2), and the positions of the T-b boundaries are based on Yang et al.4 The American Journal of Human Genetics 2014 94, 891-897DOI: (10.1016/j.ajhg.2014.04.012) Copyright © 2014 The American Society of Human Genetics Terms and Conditions