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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis
Human Molecular Genetics, Volume 22, No. 8, Year 2013
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Description
Distal arthrogryposis (DA) is a heterogeneous subgroup of arthrogryposis multiplex congenita (AMC), a large family of disorders characterized by multiple congenital joint limitations due to reduced fetal movements. DA is mainly characterized by contractures afflicting especially the distal extremities without overt muscular or neurological signs. Although a limited number of genes mostly implicated in the contractile apparatus have been identified in DA, most patients failed to show mutations in currently known genes. Using a pangenomic approach, we demonstrated linkage of DA to chromosome 2q37 in two consanguineous families and the endothelin-converting enzyme like 1 (ECEL1) gene present in this region was associated with DA. Screening of a panel of 20 families with non-specific DA identified seven homozygous or compound heterozygous mutations of ECEL1 in a total of six families. Mutations resulted mostly in the absence of protein. ECEL1 is a neuronal endopeptidase predominantly expressed in the central nervous system and brain structures during fetal life in mice and human. ECEL1 plays a major role in intramuscular axonal branching of motor neurons in skeletal muscle during embryogenesis. A detailed review of clinical findings of DA patients with ECEL1 mutations revealed a homogeneous and recognizable phenotype characterized by limited knee flexion, flexed third to fifth fingers and severe muscle atrophy predominant on lower limbs and tongue that suggested a common pathogenic mechanism. We described a new and homogenous phenotype of DA associated with ECEL1 that resulted in symptoms involving rather the peripheral than the central nervous system and suggesting a developmental dysfunction. © The Author 2012. Published by Oxford University Press. All rights reserved.
Authors & Co-Authors
Dieterich, Klaus
France, La Tronche
Grenoble Institut Des Neurosciences
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
France, Le Kremlin-bicetre
Neuroprotection et Neurorégénération : Molécules Neuroactives de Petite Taille
Quijano-Roy, Susana
France, Garches
Hopital Raymond Poincare
Monnier, Nicole
France, La Tronche
Grenoble Institut Des Neurosciences
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Zhou, Jie
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Fauré, Julien
France, La Tronche
Grenoble Institut Des Neurosciences
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Smirnow, Daniela Avila
France, Garches
Hopital Raymond Poincare
Carlier, Robert Y.
France, Garches
Hopital Raymond Poincare
Laroche, Cécile
France, Limoges
Chu de Limoges
Marcorelles, Pascale
France, Brest
Centre Hospitalier Universitaire de Brest
Mercier, Sandra
France, Rennes
Université de Rennes
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Odent, Sylvie
France, Rennes
Université de Rennes
Roméro, Norma Beatriz
France, Paris
Institut de Myologie
Sternberg, Damien
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Marty, Isabelle
France, La Tronche
Grenoble Institut Des Neurosciences
Estournet-Mathiaud, Brigitte
France, Garches
Hopital Raymond Poincare
Jouk, Pierre Simon
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Melki, Judith
France, Le Kremlin-bicetre
Neuroprotection et Neurorégénération : Molécules Neuroactives de Petite Taille
Lunardi, Joël L.
France, La Tronche
Grenoble Institut Des Neurosciences
France, Grenoble
Centre Hospitalier Universitaire de Grenoble
Statistics
Citations: 72
Authors: 19
Affiliations: 10
Identifiers
Doi:
10.1093/hmg/dds514
ISSN:
09646906
e-ISSN:
14602083
Research Areas
Genetics And Genomics