Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

Robert B Hufnagel; Gavin Arno; Nichole D Hein; Joshua Hersheson; Megana Prasad; Yvonne Anderson; Laura A Krueger; Louise C Gregory; Corinne Stoetzel; Thomas J Jaworek; Sarah Hull; Abi Li; Vincent Plagnol; Christi M Willen; Thomas M Morgan; Cynthia A Prows; Rashmi S Hegde; Saima Riazuddin; Gregory A Grabowski; Rudy J Richardson; Klaus Dieterich; Taosheng Huang; Tamas Revesz; J P Martinez-Barbera; Robert A Sisk; Craig Jefferies; Henry Houlden; Mehul T Dattani; John K Fink; Helene Dollfus; Anthony T Moore; Zubair M Ahmed

doi:10.1136/jmedgenet-2014-102856

Article info

Genotype-phenotype correlations

Original article

Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

Authors

Robert B Hufnagel Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA PubMed articles Google scholar articles
Gavin Arno UCL Institute of Ophthalmology and Moorfields Eye Hospital, London, UK PubMed articles Google scholar articles
Nichole D Hein Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA PubMed articles Google scholar articles
Joshua Hersheson Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK PubMed articles Google scholar articles
Megana Prasad Laboratoire de génétique Médicale, Université de Strasbourg, FMTS, Strasbourg, France PubMed articles Google scholar articles
Yvonne Anderson Department of Paediatrics, Taranaki Base Hospital, New Plymouth, New ZealandLiggins Institute, University of Auckland, Auckland, New Zealand PubMed articles Google scholar articles
Laura A Krueger Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA PubMed articles Google scholar articles
Louise C Gregory Developmental Endocrinology Research Group, Genetics and Epigenetics in Health and Disease Section, Genetics and Genomic Medicine Programme, University College London Institute of Child Health, London, UK PubMed articles Google scholar articles
Corinne Stoetzel Laboratoire de génétique Médicale, Université de Strasbourg, FMTS, Strasbourg, France PubMed articles Google scholar articles
Thomas J Jaworek Department of Otorhinolaryngology, University of Maryland, Baltimore, Maryland, USA PubMed articles Google scholar articles
Sarah Hull UCL Institute of Ophthalmology and Moorfields Eye Hospital, London, UK PubMed articles Google scholar articles
Abi Li Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK PubMed articles Google scholar articles
Vincent Plagnol Department of Statistical Genetics, University College London, London, UK PubMed articles Google scholar articles
Christi M Willen Department of Pediatric Ophthalmology, University of Kentucky, Lexington, Kentucky, USA PubMed articles Google scholar articles
Thomas M Morgan Department of Pediatrics, Vanderbilt University, Nashville, Tennessee, USA PubMed articles Google scholar articles
Cynthia A Prows Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA PubMed articles Google scholar articles
Rashmi S Hegde Developmental Biology, Cincinnati Children's Hospital, Cincinnati, Ohio, USA PubMed articles Google scholar articles
Saima Riazuddin Department of Otorhinolaryngology, University of Maryland, Baltimore, Maryland, USA PubMed articles Google scholar articles
Gregory A Grabowski Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA PubMed articles Google scholar articles
Rudy J Richardson Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA Department of Environmental Health Sciences, University of Michigan, Ann Arbor, Michigan, USA PubMed articles Google scholar articles
Klaus Dieterich Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble and Grenoble Institut des Neurosciences, Equipe Muscle et Pathologie, Grenoble, France PubMed articles Google scholar articles
Taosheng Huang Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA PubMed articles Google scholar articles
Tamas Revesz Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK PubMed articles Google scholar articles
J P Martinez-Barbera Developmental Endocrinology Research Group, Genetics and Epigenetics in Health and Disease Section, Genetics and Genomic Medicine Programme, University College London Institute of Child Health, London, UK PubMed articles Google scholar articles
Robert A Sisk Division of Pediatric Ophthalmology, Cincinnati Children's Hospital, Cincinnati, Ohio, USA Cincinnati Eye Institute, Cincinnati, Ohio, USA PubMed articles Google scholar articles
Craig Jefferies Department of Paediatric Endocrinology, Starship Children's Hospital, Auckland, New Zealand PubMed articles Google scholar articles
Henry Houlden Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK PubMed articles Google scholar articles
Mehul T Dattani Developmental Endocrinology Research Group, Genetics and Epigenetics in Health and Disease Section, Genetics and Genomic Medicine Programme, University College London Institute of Child Health, London, UK PubMed articles Google scholar articles
John K Fink Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA PubMed articles Google scholar articles
Helene Dollfus Laboratoire de génétique Médicale, Université de Strasbourg, FMTS, Strasbourg, France Centre de référence pour les Affections Rares Ophtalmologiques CARGO, Hôpitaux Universitaires de Strasbourg, Strasbourg, France PubMed articles Google scholar articles
Anthony T Moore UCL Institute of Ophthalmology and Moorfields Eye Hospital, London, UK PubMed articles Google scholar articles
Zubair M Ahmed Department of Otorhinolaryngology, University of Maryland, Baltimore, Maryland, USA PubMed articles Google scholar articles

Correspondence to Dr Robert B Hufnagel, Department of Human Genetics, Cincinnati Children's Hospital, 3333 Burnet Avenue ML 4006, Cincinnati, OH 45229, USA; robert.hufnagel{at}cchmc.org Zubair M Ahmed, BioPark I, 801 West Baltimore St, Room 404, Baltimore, MD, 21201, USA;zahmed{at}smail.umaryland.edu

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Citation

Hufnagel RB, Arno G, Hein ND, et al

Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

Journal of Medical Genetics 2015;52:85-94.

Publication history

Received October 29, 2014
Revised November 16, 2014
Accepted November 18, 2014
First published December 5, 2014.

Online issue publication

April 27, 2016

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