CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis
Identifieur interne : 001330 ( Main/Exploration ); précédent : 001329; suivant : 001331CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis
Auteurs : Holger Hengel ; Alex Magee ; Muhammad Mahanjah ; Jean-Michel Vallat ; Robert Ouvrier ; Mohammad Abu-Rashid ; Jamal Mahamid ; Rebecca Schüle ; Martin Schulze ; Ingeborg Kr Geloh-Mann ; Peter Bauer ; Stephan Züchner ; Rajech Sharkia ; Ludger SchölsSource :
- Neurology: Genetics [ 2376-7839 ] ; 2017.
Abstract
To explore the phenotypic spectrum and pathophysiology of human disease deriving from mutations in the
In a field study on consanguineous Palestinian families, we identified 3 patients carrying homozygous mutations in the
We identified 3 novel
Url:
DOI: 10.1212/NXG.0000000000000144
PubMed: 28374019
PubMed Central: 5363873
Affiliations:
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mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis</title>
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<author><name sortKey="Ouvrier, Robert" sort="Ouvrier, Robert" uniqKey="Ouvrier R" first="Robert" last="Ouvrier">Robert Ouvrier</name>
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<author><name sortKey="Abu Rashid, Mohammad" sort="Abu Rashid, Mohammad" uniqKey="Abu Rashid M" first="Mohammad" last="Abu-Rashid">Mohammad Abu-Rashid</name>
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<author><name sortKey="Mahamid, Jamal" sort="Mahamid, Jamal" uniqKey="Mahamid J" first="Jamal" last="Mahamid">Jamal Mahamid</name>
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<author><name sortKey="Schule, Rebecca" sort="Schule, Rebecca" uniqKey="Schule R" first="Rebecca" last="Schüle">Rebecca Schüle</name>
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<author><name sortKey="Schulze, Martin" sort="Schulze, Martin" uniqKey="Schulze M" first="Martin" last="Schulze">Martin Schulze</name>
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<author><name sortKey="Kr Geloh Mann, Ingeborg" sort="Kr Geloh Mann, Ingeborg" uniqKey="Kr Geloh Mann I" first="Ingeborg" last="Kr Geloh-Mann">Ingeborg Kr Geloh-Mann</name>
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<author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name>
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<author><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Züchner">Stephan Züchner</name>
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<author><name sortKey="Sharkia, Rajech" sort="Sharkia, Rajech" uniqKey="Sharkia R" first="Rajech" last="Sharkia">Rajech Sharkia</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>CNTNAP1</italic>
mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis</title>
<author><name sortKey="Hengel, Holger" sort="Hengel, Holger" uniqKey="Hengel H" first="Holger" last="Hengel">Holger Hengel</name>
</author>
<author><name sortKey="Magee, Alex" sort="Magee, Alex" uniqKey="Magee A" first="Alex" last="Magee">Alex Magee</name>
</author>
<author><name sortKey="Mahanjah, Muhammad" sort="Mahanjah, Muhammad" uniqKey="Mahanjah M" first="Muhammad" last="Mahanjah">Muhammad Mahanjah</name>
</author>
<author><name sortKey="Vallat, Jean Michel" sort="Vallat, Jean Michel" uniqKey="Vallat J" first="Jean-Michel" last="Vallat">Jean-Michel Vallat</name>
</author>
<author><name sortKey="Ouvrier, Robert" sort="Ouvrier, Robert" uniqKey="Ouvrier R" first="Robert" last="Ouvrier">Robert Ouvrier</name>
</author>
<author><name sortKey="Abu Rashid, Mohammad" sort="Abu Rashid, Mohammad" uniqKey="Abu Rashid M" first="Mohammad" last="Abu-Rashid">Mohammad Abu-Rashid</name>
</author>
<author><name sortKey="Mahamid, Jamal" sort="Mahamid, Jamal" uniqKey="Mahamid J" first="Jamal" last="Mahamid">Jamal Mahamid</name>
</author>
<author><name sortKey="Schule, Rebecca" sort="Schule, Rebecca" uniqKey="Schule R" first="Rebecca" last="Schüle">Rebecca Schüle</name>
</author>
<author><name sortKey="Schulze, Martin" sort="Schulze, Martin" uniqKey="Schulze M" first="Martin" last="Schulze">Martin Schulze</name>
</author>
<author><name sortKey="Kr Geloh Mann, Ingeborg" sort="Kr Geloh Mann, Ingeborg" uniqKey="Kr Geloh Mann I" first="Ingeborg" last="Kr Geloh-Mann">Ingeborg Kr Geloh-Mann</name>
</author>
<author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name>
</author>
<author><name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Züchner">Stephan Züchner</name>
</author>
<author><name sortKey="Sharkia, Rajech" sort="Sharkia, Rajech" uniqKey="Sharkia R" first="Rajech" last="Sharkia">Rajech Sharkia</name>
</author>
<author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name>
</author>
</analytic>
<series><title level="j">Neurology: Genetics</title>
<idno type="eISSN">2376-7839</idno>
<imprint><date when="2017">2017</date>
</imprint>
</series>
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<front><div type="abstract" xml:lang="en"><sec><title>Objective:</title>
<p>To explore the phenotypic spectrum and pathophysiology of human disease deriving from mutations in the <italic>CNTNAP1</italic>
gene.</p>
</sec>
<sec><title>Methods:</title>
<p>In a field study on consanguineous Palestinian families, we identified 3 patients carrying homozygous mutations in the <italic>CNTNAP1</italic>
gene using whole-exome sequencing. An unrelated Irish family was detected by screening the GENESIS database for further <italic>CNTNAP1</italic>
mutations. Neurophysiology, MRI, and nerve biopsy including electron microscopy were performed for deep phenotyping.</p>
</sec>
<sec><title>Results:</title>
<p>We identified 3 novel <italic>CNTNAP1</italic>
mutations in 5 patients from 2 families: c.2015G>A:p.(Trp672*) in a homozygous state in family 1 and c.2011C>T:p.(Gln671*) in a compound heterozygous state with c.2290C>T:p.(Arg764Cys) in family 2. Affected patients suffered from a severe CNS disorder with hypomyelinating leukodystrophy and peripheral neuropathy of sensory-motor type. Arthrogryposis was present in 2 patients but absent in 3 patients. Brain MRI demonstrated severe hypomyelination and secondary cerebral and cerebellar atrophy as well as a mega cisterna magna and corpus callosum hypoplasia. Nerve biopsy revealed very distinct features with lack of transverse bands at the paranodes and widened paranodal junctional gaps.</p>
</sec>
<sec><title>Conclusions:</title>
<p><italic>CNTNAP1</italic>
mutations have recently been linked to patients with arthrogryposis multiplex congenita. However, we show that arthrogryposis is not an obligate feature. <italic>CNTNAP1</italic>
-related disorders are foremost severe hypomyelinating disorders of the CNS and the peripheral nervous system. The pathology is partly explained by the involvement of CNTNAP1 in the proper formation and preservation of paranodal junctions and partly by the assumed role of CNTNAP1 as a key regulator in the development of the cerebral cortex.</p>
</sec>
</div>
</front>
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<affiliations><list></list>
<tree><noCountry><name sortKey="Abu Rashid, Mohammad" sort="Abu Rashid, Mohammad" uniqKey="Abu Rashid M" first="Mohammad" last="Abu-Rashid">Mohammad Abu-Rashid</name>
<name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name>
<name sortKey="Hengel, Holger" sort="Hengel, Holger" uniqKey="Hengel H" first="Holger" last="Hengel">Holger Hengel</name>
<name sortKey="Kr Geloh Mann, Ingeborg" sort="Kr Geloh Mann, Ingeborg" uniqKey="Kr Geloh Mann I" first="Ingeborg" last="Kr Geloh-Mann">Ingeborg Kr Geloh-Mann</name>
<name sortKey="Magee, Alex" sort="Magee, Alex" uniqKey="Magee A" first="Alex" last="Magee">Alex Magee</name>
<name sortKey="Mahamid, Jamal" sort="Mahamid, Jamal" uniqKey="Mahamid J" first="Jamal" last="Mahamid">Jamal Mahamid</name>
<name sortKey="Mahanjah, Muhammad" sort="Mahanjah, Muhammad" uniqKey="Mahanjah M" first="Muhammad" last="Mahanjah">Muhammad Mahanjah</name>
<name sortKey="Ouvrier, Robert" sort="Ouvrier, Robert" uniqKey="Ouvrier R" first="Robert" last="Ouvrier">Robert Ouvrier</name>
<name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name>
<name sortKey="Schule, Rebecca" sort="Schule, Rebecca" uniqKey="Schule R" first="Rebecca" last="Schüle">Rebecca Schüle</name>
<name sortKey="Schulze, Martin" sort="Schulze, Martin" uniqKey="Schulze M" first="Martin" last="Schulze">Martin Schulze</name>
<name sortKey="Sharkia, Rajech" sort="Sharkia, Rajech" uniqKey="Sharkia R" first="Rajech" last="Sharkia">Rajech Sharkia</name>
<name sortKey="Vallat, Jean Michel" sort="Vallat, Jean Michel" uniqKey="Vallat J" first="Jean-Michel" last="Vallat">Jean-Michel Vallat</name>
<name sortKey="Zuchner, Stephan" sort="Zuchner, Stephan" uniqKey="Zuchner S" first="Stephan" last="Züchner">Stephan Züchner</name>
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