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  Expanding the clinical phenotype of patients with a ZDHHC9 mutation

Masurel-Paulet, A., Kalscheuer, V. M., Lebrun, N., Hu, H., Levy, F., Thauvin-Robinet, C., et al. (2014). Expanding the clinical phenotype of patients with a ZDHHC9 mutation. American Journal of Medical Genetics Part A, 164A(3), 789-795. doi:10.1002/ajmg.a.36348.

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Masurel_Paulet.pdf (Verlagsversion), 574KB
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© 2013 Wiley Periodicals, Inc.
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http://www.ncbi.nlm.nih.gov/pubmed/24357419 (beliebiger Volltext)
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Masurel-Paulet, A., Autor
Kalscheuer, V. M.1, Autor           
Lebrun, N., Autor
Hu, H., Autor
Levy, F., Autor
Thauvin-Robinet, C., Autor
Darmency-Stamboul, V., Autor
El Chehadeh, S., Autor
Thevenon, J., Autor
Chancenotte, S., Autor
Ruffier-Bourdet, M., Autor
Bonnet, M., Autor
Pinoit, J. M., Autor
Huet, F., Autor
Desportes, V., Autor
Chelly, J., Autor
Faivre, L., Autor
Affiliations:
1Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Schlagwörter: Acyltransferases/genetics Adolescent Adult Brain/pathology Child Facies Fatal Outcome *Genes, X-Linked Humans Intellectual Disability/*diagnosis/*genetics Magnetic Resonance Imaging Male *Mutation Neuropsychological Tests Pedigree *Phenotype Young Adult
 Zusammenfassung: In 2007, 250 families with X-linked intellectual disability (XLID) were screened for mutations in genes on the X-chromosome, and in 4 of these families, mutations in the ZDHHC9 gene were identified. The ID was either isolated or associated with a marfanoid habitus. ZDHHC9 encodes a palmitoyl transferase that catalyzes the posttranslational modification of NRAS and HRAS. Since this first description, no additional patient with a ZDHHC9 mutation has been reported in the literature. Here, we describe a large family in which we identified a novel pathogenic ZDHHC9 nonsense mutation (p.Arg298*) by parallel sequencing of all X-chromosome exons. The mutation cosegregated with the clinical phenotype in this family. An 18-year-old patient and his 40-year-old maternal uncle were evaluated. Clinical examination showed normal growth parameters, lingual fasciculation, limited extension of the elbows and metacarpophalangeal joints, and acrocyanosis. There was neither facial dysmorphism nor marfanoid habitus. Brain MRI detected a dysplastic corpus callosum. Neuropsychological testing showed mild intellectual disability. They both displayed generalized anxiety disorder, and the younger patient also suffered from significant behavior impairment that required attention or treatment. Speech evaluation detected satisfactory spoken language since both were able to provide information and to understand conversations of everyday life. Occupational therapy examination showed impaired visual-spatial and visual-motor performance with poor drawing/graphic skills. These manifestations are not specific enough to guide ZDHHC9 screening in patients with ID, and emphasize the value of next generation sequencing for making a molecular diagnosis and genetic counseling in families with XLID.

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Sprache(n): eng - English
 Datum: 2013-12-192014-03
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: Expertenbegutachtung
 Identifikatoren: DOI: 10.1002/ajmg.a.36348
ISSN: 1552-4833 (Electronic)1552-4825 (Print)
 Art des Abschluß: -

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Titel: American Journal of Medical Genetics Part A
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: Hoboken, N.J. : Wiley-Liss
Seiten: - Band / Heft: 164A (3) Artikelnummer: - Start- / Endseite: 789 - 795 Identifikator: ISSN: 1552-4825
CoNE: https://pure.mpg.de/cone/journals/resource/954925476465