First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.
Fiche publication
Date publication
novembre 2017
Journal
BMC medical genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr CHELLY Jamel
Tous les auteurs :
Rejeb I, Jilani H, Elaribi Y, Hizem S, Hila L, Zillahrdt JL, Chelly J, Benjemaa L
Lien Pubmed
Résumé
Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants. The integrity of the Golgi apparatus requires the presence of the peripheral membrane protein VPS13B that have an essential function in intracellular protein transport and vesicle-mediated sorting.
Mots clés
Child, Child, Preschool, Developmental Disabilities, genetics, Exome, genetics, Female, Fingers, abnormalities, Genome, Human, Humans, Intellectual Disability, genetics, Male, Microcephaly, genetics, Muscle Hypotonia, genetics, Mutation, Myopia, genetics, Obesity, genetics, Pedigree, Prognosis, Vesicular Transport Proteins, genetics
Référence
BMC Med. Genet.. 2017 11 17;18(1):134