Article
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.
European journal of human genetics : EJHG - 1 Jan 2017
Nizon Mathilde, Cogne Benjamin, Vallat Jean-Michel, Joubert Madeleine, Liet Jean-Michel, Simon Laure, Vincent Marie, Küry Sébastien, Boisseau Pierre, Schmitt Sébastien, Mercier Sandra, Bénéteau Claire, Larrose Catherine, Coste Marianne, Latypova Xénia, Péréon Yann, Mussini Jean-Marie, Bézieau Stéphane, Isidor Bertrand
Abstract excerpt
Homozygous frameshift variants in CNTNAP1 have recently been reported in patients with arthrogryposis and abnormal axon myelination. In two brothers with severe congenital hypotonia and foot deformities, we identified compound heterozygous variants in CNTNAP1, reporting the first causative missense variant, p.(Cys323Arg). Motor nerve conductions were markedly decreased. Nerve microscopical lesions confirmed a...
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