Homozygous deletion of an <i>EGR2</i> enhancer in congenital amyelinating neuropathy

Funalot, Benoît; Topilko, Piotr; Arroyo, Μ.; Sefiani, Abdelaziz; Hedley‐Whyte, E. Tessa; Yoldi, Maria Eugenia; Richard, Laurence; Touraille, Estelle; Laurichesse, Mathieu; Khalifa, Emmanuel; Chauzeix, Jasmine; Ouedraogo, Adama; Cros, Didier; Magdelaine, Corinne; Sturtz, Franck; Urtizberea, J. Andoni; Charnay, Patrick; Bragado, Federico García; Vallat, Jean‐Michel

doi:10.1002/ana.23527

Cited by 20 publications

(16 citation statements)

References 20 publications

(23 reference statements)

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“…4 A homozygous deletion of an EGR2 enhancer was also reported in a patient with congenital amyelinating neuropathy. 5 Recently, variants in GPR126 were reported in patients with lethal congenital contracture syndrome and lack of myelin basic protein. 6 Homozygous frameshift variants in CNTNAP1 (Contactin-associated protein 1) have been identified in seven patients with arthrogryposis and abnormal axon myelination, considered as lethal congenital contracture syndrome (MIM#616286).…”

Section: Introductionmentioning

confidence: 99%

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

Nizon¹,

Cogné²,

Vallat³

et al. 2016

Eur J Hum Genet

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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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Section: Introductionmentioning

confidence: 99%

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

Nizon¹,

Cogné²,

Vallat³

et al. 2016

Eur J Hum Genet

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“…At birth or in the first months of life, peripheral neuropathies are not always recognized. This genetic anomaly was associated with a complete loss of EGR2 expression in the peripheral nervous system of the patient [23]. Many cases of CHN with detailed pathological data were reported before the era of molecular genetics [20].…”

Section: Clinical Features Of Charcot-marie-tooth Diseasesmentioning

confidence: 99%

The various Charcot–Marie–Tooth diseases

Vallat

Mathis

Funalot

2013

Current Opinion in Neurology

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CMT disease is the most common inherited neuromuscular disorder, with a fairly homogeneous clinical phenotype (progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, and depressed tendon reflexes). With more than 40 genes implicated, an update of the present and rather confusing classification of CMT is needed. Over the last few years, new mutated genes have been discovered. Although nerve biopsy is not routinely carried out in CMT neuropathies, it may show characteristic features, which can orientate the search for the mutated gene. There are currently no effective medications for CMT, but clinical trials are ongoing or planned.

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“…The congenital amyelination neuropathy (CAN) is an autosomal recessive variant caused by EGR2 mutations with oligohydramnios, hypotonia, respiratory failure, reduced movements, and arthrogryposis at birth and death before 1 year of age. Nerve biopsy showed a complete absence of PNS myelin, large axons ensheathed by Schwann cell processes and absent EGR2 immunoreactivity in Schwann cells [70].…”

Section: Cmt4e (Ar Cmt1e; Mim 605253)mentioning

confidence: 99%