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  Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

So, J., Suckow, V., Kijas, Z., Kalscheuer, V. M., Moser, B., Winter, J., et al. (2005). Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. American Journal of Medical Genetics: Part A, 132(1), 1-7. doi:10.1002/ajmg.a.30407.

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Genre: Zeitschriftenartikel
Alternativer Titel : Am. J. Med. Genet.

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 Urheber:
So, Joyce1, Autor           
Suckow, Vanessa2, Autor           
Kijas, Zofia3, Autor
Kalscheuer, Vera M.4, Autor           
Moser, Bettina3, Autor
Winter, Jennifer1, Autor           
Baars, Marieke, Autor
Firth, Helen, Autor
Lunt, Peter, Autor
Hamel, Ben, Autor
Meinecke, Peter, Autor
Moraine, Claude, Autor
Odent, Sylvie, Autor
Schinzel, Albert, Autor
van der Smagt, J.J., Autor
Devriendt, Koen, Autor
Albrecht, Beate, Autor
Gillessen-Kaesbach, Gabriele, Autor
van der Burgt, Ineke, Autor
Petrij, Fred, Autor
Faivre, Laurence, AutorMcGaughran, Julie, AutorMcKenzie, Fiona, AutorOpitz, John M., AutorCox, Timothy, AutorSchweiger, Susann1, Autor            mehr..
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Signal Transduction in Mental Retardation and Pain (Tim Hucho), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479646              
3Max Planck Society, ou_persistent13              
4Chromosome 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: X-linked Opitz syndrome MID1 phenotypic variability
 Zusammenfassung: Opitz syndrome (OS; MIM 145410 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal (LTE) abnormalities, imperforate anus, developmental delay, and cardiac defects. The X-linked form (XLOS) is caused by mutations in the MID1 gene, which encodes a microtubule-associated RBCC protein. In this study, phenotypic manifestations of patients with and without MID1 mutations were compared to determine genotype-phenotype correlations. We detected 10 novel mutations, 5 in familial cases, 2 in sporadic cases, and 3 in families for whom it was not clear if they were familial or sporadic. The genotype and phenotype was compared for these 10 families, clinically diagnosed OS patients found not to have MID1 mutations, and 4 families in whom we have previously reported MID1 mutations. This combined data set includes clinical and mutation data on 70 patients. The XLOS patients with MID1 mutations were less severely affected than patients with MID1 mutations reported in previous studies, particularly in functionally significant neurologic, LTE, anal, and cardiac abnormalities. Minor anomalies were more prevalent in patients with MID1 mutations compared to those without mutations in this study. Female MID1 mutation carriers had milder phenotypes compared to male MID1 mutation carriers, with the most common manifestation being hypertelorism in both sexes. Most of the anomalies found in the patients of the present study do not correlate with the MID1 mutation type, with the possible exception of LTE malformations. This study demonstrates the wide spectrum of severity and manifestations of OS. It also shows that XLOS patients with MID1 mutations may be less severely affected than indicated in prior reports.

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Sprache(n): eng - English
 Datum: 2005-01-01
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Identifikatoren: eDoc: 271957
DOI: 10.1002/ajmg.a.30407
 Art des Abschluß: -

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Titel: American Journal of Medical Genetics : Part A
  Alternativer Titel : Am. J. Med. Genet.
Genre der Quelle: Zeitschrift
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Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 132 (1) Artikelnummer: - Start- / Endseite: 1 - 7 Identifikator: ISSN: 1096-8628