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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders
Annals of Neurology, Volume 59, No. 3, Year 2006
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Description
Objective: Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. It is characterized by hypoplasia of the cerebellar vermis and a particular midbrain-hindbrain "molar tooth" sign, a finding shared by a group of Joubert syndrome-related disorders (JSRDs), with wide phenotypic variability. The frequency of mutations in the first positionally cloned gene, AHI1, is unknown. Methods: We searched for mutations in the AHI1 gene among a cohort of 137 families with JSRD and radiographically proven molar tooth sign. Results: We identified 15 deleterious mutations in 10 families with pure JS or JS plus retinal and/or additional central nervous system abnormalities. Mutations among families with JSRD including kidney or liver involvement were not detected. Transheterozygous mutations were identified in the majority of those without history of consanguinity. Most mutations were truncating or splicing errors, with only one missense mutation in the highly conserved WD40 repeat domain that led to disease of similar severity. Interpretation: AHI1 mutations are a frequent cause of disease in patients with specific forms of JSRD. © 2006 American Neurological Association.
Authors & Co-Authors
Valente, Enza Maria
Italy, Rome
Mendel Institute
Brancati, Francesco
Italy, Rome
Mendel Institute
Italy, Chieti
University of G. D'annunzio Chieti and Pescara
Italy, Rome
Sapienza Università Di Roma
Silhavy, Jennifer L.
United States, La Jolla
Department of Neurosciences
Castori, Marco
Italy, Rome
Mendel Institute
Italy, Rome
Sapienza Università Di Roma
Marsh, Sarah E.
United States, La Jolla
Department of Neurosciences
Barrano, Giuseppe
Italy, Rome
Mendel Institute
Italy, Rome
Sapienza Università Di Roma
Bertini, Enrico Silvio
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Boltshauser, Eugen J.
Switzerland, Zurich
Kinderspital Zürich
Zaki, Maha S.
Egypt, Giza
National Research Centre
Abdel Aleem, Alice K.
Egypt, Giza
National Research Centre
Abdel-Salam, Ghada M.H.
Egypt, Giza
National Research Centre
Bellacchio, Emanuele
Italy, Rome
Mendel Institute
Battini, Roberta
Italy, San Miniato
Irccs Fondazione Stella Maris
Cruse, Robert P.
United States, Houston
Texas Children's Hospital Clinical Care Center
Dobyns, William B.
United States, Chicago
The University of Chicago
Krishnamoorthy, Kalpathy S.
United States, Boston
Massachusetts General Hospital
Lagier-Tourenne, Clotilde
France, Illkirch-graffenstaden
Igbmc Institut de Genetique et de Biologie Moleculaire et Cellulaire
Magee, Alex C.
United Kingdom, Belfast
Belfast City Hospital
Pascual-Castroviejo, Ignacio
Spain, Madrid
Hospital Universitario la Paz
Salpietro, D. C.
Italy, Messina
Università Degli Studi Di Messina
Sarco, Dean P.
United States, Boston
Boston Children's Hospital
Dallapiccola, Bruno
Italy, Rome
Mendel Institute
Italy, Rome
Sapienza Università Di Roma
Gleeson, Joseph G.
United States, La Jolla
Department of Neurosciences
United States, La Jolla
University of California, San Diego
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Statistics
Citations: 23
Authors: 23
Affiliations: 18
Identifiers
Doi:
10.1002/ana.20749
ISSN:
03645134
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Study Design
Cohort Study