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  ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation

Alber, M., Kalscheuer, V. M., Marco, E., Sherr, E., Lesca, G., Till, M., et al. (2017). ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. Neurology Genetics, 3(3): e148. doi:10.1212/NXG.0000000000000148.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0000-C832-6 Version Permalink: http://hdl.handle.net/21.11116/0000-0000-C837-1
Genre: Journal Article

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Alber.pdf (Publisher version), 330KB
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© 2017 The Author(s)

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 Creators:
Alber, M., Author
Kalscheuer, V. M.1, Author              
Marco, E., Author
Sherr, E., Author
Lesca, G., Author
Till, M., Author
Gradek, G., Author
Wiesener, A., Author
Korenke, C., Author
Mercier, S., Author
Becker, F., Author
Yamamoto, T., Author
Scherer, S. W., Author
Marshall, C. R., Author
Walker, S., Author
Dutta, U. R., Author
Dalal, A. B., Author
Suckow, V.2, Author              
Jamali, P., Author
Kahrizi, K., Author
Najmabadi, H., AuthorMinassian, B. A., Author more..
Affiliations:
1Chromosome Rearrangements and Disease (Vera Kalscheuer), Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385702              
2Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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 Abstract: OBJECTIVE: We aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations. METHODS: Patients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the literature. Detailed medical history and examination findings were obtained via a standardized questionnaire, or if this was not possible by reviewing the published phenotypic features. RESULTS: A total of 18 patients (including 5 females) were identified. Six had de novo, 5 had maternally inherited mutations, and 7 had chromosomal disruptions. All females had strongly skewed X-inactivation in favor of the abnormal X-chromosome. Symptoms presented in early childhood with delayed motor development alone or in combination with seizures. Intellectual disability was severe in most and moderate in patients with milder mutations. Males with severe intellectual disability had severe, often intractable, epilepsy and exhibited a particular facial dysmorphism. Patients with mutations in exon 9 affecting the protein's PH domain did not develop epilepsy. CONCLUSIONS: ARHGEF9 encodes a crucial neuronal synaptic protein; loss of function of which results in severe intellectual disability, epilepsy, and a particular facial dysmorphism. Loss of only the protein's PH domain function is associated with the absence of epilepsy.

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Language(s): eng - English
 Dates: 2017-03-142017-05-26
 Publication Status: Published online
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1212/NXG.0000000000000148
PMC: PMC5446782
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Title: Neurology Genetics
  Alternative Title : Neurology. Genetics
Source Genre: Journal
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Publ. Info: Waltham, MA : Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Pages: - Volume / Issue: 3 (3) Sequence Number: e148 Start / End Page: - Identifier: ISSN: 2376-7839