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Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy

by Boisseau, Pierre , Vincent, Marie , Pereon, Yann , Mercier, Sandra , Schmitt, Sébastien , Hôpital Femme Mère Enfant [CHU - HCL] (HFME) ; Hospices Civils de Lyon (HCL) , Cogné, Benjamin , Liet, Jean-Michel , Simon, Laure , Joubert, Madeleine , Küry, Sébastien , Nizon, Mathilde , Vallat, Jean-Michel , Mussini, Jean-Marie , Hôpital Hôtel-Dieu [Paris] ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP) , Coste, Marianne , Isidor, Bertrand , Beneteau, Claire , Latypova, Xenia , Larrose, Catherine , Bézieau, Stéphane , CHU Limoges

in Arthrogryposis / Arthrogryposis - genetics / Arthrogryposis - physiopathology / Axons / Cell Adhesion Molecules, Neuronal - genetics / Congenital diseases / Defects / Foot Deformities - genetics / Foot Deformities - physiopathology / Gene expression / Genetic Predisposition to Disease / Genetics / Homozygote / Human health and pathology / Humans / Infant / Infant, Newborn / Life Sciences / Male / Muscle Hypotonia - genetics / Muscle Hypotonia - physiopathology / Mutation / Mutation, Missense / Myelin Sheath - genetics / Myelination / Neuropathy / Patients / Pediatrics / Proteins / Short Report / Siblings

2017

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Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy

2017

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2017

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Journal Article

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy

Boisseau, Pierre,

Vincent, Marie,

Pereon, Yann,

Mercier, Sandra,

Schmitt, Sébastien,

Hôpital Femme Mère Enfant [CHU - HCL] (HFME) ; Hospices Civils de Lyon (HCL),

Cogné, Benjamin,

Liet, Jean-Michel,

Simon, Laure,

Joubert, Madeleine,

Küry, Sébastien,

Nizon, Mathilde,

Vallat, Jean-Michel,

Mussini, Jean-Marie,

Hôpital Hôtel-Dieu [Paris] ; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP),

Coste, Marianne,

Isidor, Bertrand,

Beneteau, Claire,

Latypova, Xenia,

Larrose, Catherine,

Bézieau, Stéphane,

CHU Limoges

2017

Overview

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 severe hypomyelinating process and showed loss of attachment sites of the myelin loops on the axons, which could be a characteristic of Caspr loss-of-function. We discuss the pathophysiology of the myelination process and we propose to consider this disorder as a congenital hypomyelinating neuropathy.

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Publisher

Nature Publishing Group,CCSD

Subject

Arthrogryposis

/ Arthrogryposis - genetics

/ Arthrogryposis - physiopathology

/ Axons

/ Cell Adhesion Molecules, Neuronal - genetics

/ Congenital diseases

/ Defects