Deutsch
 
Hilfe Datenschutzhinweis Impressum
  DetailsucheBrowse

Datensatz

 
 
DownloadE-Mail
  A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

Darvish, H.., Nieh, S. E., Monajemi, G. B., Mohseni, M., Ghasemi-Firouzabadi, S., Abedini, S. S., et al. (2010). A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. Journal of Medical Genetics., 47(12), 823-828. doi:10.1136/jmg.2009.076398.

Item is

Basisdaten

einblenden: ausblenden:
Genre: Zeitschriftenartikel
Alternativer Titel : J. Med. Genet.

Dateien

einblenden: Dateien
ausblenden: Dateien
:
823.full.pdf (beliebiger Volltext), 164KB
Name:
823.full.pdf
Beschreibung:
-
OA-Status:
Sichtbarkeit:
Öffentlich
MIME-Typ / Prüfsumme:
application/pdf / [MD5]
Technische Metadaten:
Copyright Datum:
-
Copyright Info:
eDoc_access: PUBLIC
Lizenz:
-

Externe Referenzen

einblenden:

Urheber

einblenden:
ausblenden:
 Urheber:
Darvish, H. ., Autor
Nieh, Sahar Esmaeeli1, Autor
Monajemi, G. B., Autor
Mohseni, M., Autor
Ghasemi-Firouzabadi, S., Autor
Abedini, S. S., Autor
Bahman, I., Autor
P Jamali, P., Autor
Azimi, S., Autor
Mojahedi, F., Autor
Dehghan, A., Autor
Shafeghati, Y., Autor
Jankhah, A., Autor
Falah, M., Autor
Soltani Banavandi, M. J., Autor
Ghani-Kakhi, M., Autor
Garshasbi, M.2, Autor           
Rakhshani, F., Autor
Naghavi, A., Autor
Tzschach, Andreas2, Autor           
Neitzel, H., AutorRopers, Hans-Hilger2, Autor           Kuss, Andreas W.3, Autor           Behjati, F., AutorKahrizi, K., AutorNajmabadi, Hossein, Autor mehr..
Affiliations:
1Max Planck Society, ou_persistent13              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              

Inhalt

einblenden:
ausblenden:
Schlagwörter: -
 Zusammenfassung: Background: Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance. Affected individuals present with head circumferences more than three SDs below the age- and sex-matched population mean, associated with mild to severe mental retardation. Five genes (MCPH1, CDK5RAP2, ASPM, CENPJ, STIL) and two genomic loci, MCPH2 and MCPH4, have been identified so far. Methods and results: In this study, we investigated all seven MCPH loci in patients with primary microcephaly from 112 Consanguineous Iranian families. In addition to a thorough clinical characterisation, karyotype analyses were performed for all patients. For Homozygosity mapping, microsatellite markers were selected for each locus and used for genotyping. Our investigation enabled us to detect homozygosity at MCPH1 (Microcephalin) in eight families, at MCPH5 (ASPM) in thirtheen families. Three families showed homozygosity at MCPH2 and five at MCPH6 (CENPJ), and two families were linked to MCPH7 (STIL). The remaining 81 families were not linked to any of the seven known loci. Subsequent sequencing revealed eight, 10 and one novel mutations in Microcephalin, ASPM and CENPJ, respectively. In some families, additional features such as short stature, seizures or congenital hearing loss were observed in the microcephalic patient, which widens the spectrum of clinical manifestations of mutations in known microcephaly genes. Conclusion: Our results show that the molecular basis of microcephaly is heterogeneous; thus, the Iranian population may provide a unique source for the identification of further genes underlying this disorder.

Details

einblenden:
ausblenden:
Sprache(n): eng - English
 Datum: 2010-10-26
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Art des Abschluß: -

Veranstaltung

einblenden:

Entscheidung

einblenden:

Projektinformation

einblenden:

Quelle 1

einblenden:
ausblenden:
Titel: Journal of Medical Genetics.
  Alternativer Titel : J. Med. Genet.
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 47 (12) Artikelnummer: - Start- / Endseite: 823 - 828 Identifikator: ISSN: 0022-2593