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Eur J Hum Genet. 2017 Jan;25(1):150-152. doi: 10.1038/ejhg.2016.142. Epub 2016 Oct 26.

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

Author information

1
Service de Génétique Médicale, CHU Hôtel Dieu, France.
2
Centre de référence « neuropathies périphériques rares », service de Neurologie, CHU Limoges, France.
3
Serviced' anatomopathologie, CHU Hôtel Dieu, Nantes, France.
4
Service de réanimation pédiatrique, Hôpital Mère Enfants, Nantes, France.
5
Service de réanimation néonatale, Hôpital Mère Enfants, Nantes, France.
6
Pôle de biologie, Hôpital Mère Enfants, Nantes, France.
7
Service d'explorations fonctionnelles, CHU Hôtel Dieu, Nantes, France.

Abstract

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.

PMID:
27782105
PMCID:
PMC5159775
DOI:
10.1038/ejhg.2016.142
[Indexed for MEDLINE]
Free PMC Article

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