Academic Journals Database
Disseminating quality controlled scientific knowledge

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

ADD TO MY LIST
 
Author(s): Kousar Rizwana | Hassan Muhammad | Khan Bushra | Basit Sulman | Mahmood Saqib | Mir Asif | Ahmad Wasim | Ansar Muhammad

Journal: BMC Neurology
ISSN 1471-2377

Volume: 11;
Issue: 1;
Start page: 119;
Date: 2011;
Original page

ABSTRACT
Abstract Background Autosomal recessive primary microcephaly is a disorder of neurogenic mitosis that causes reduction in brain size. It is a rare heterogeneous condition with seven causative genes reported to date. Mutations in WD repeat protein 62 are associated with autosomal recessive primary microcephaly with cortical malformations. This study was initiated to screen WDR62 mutations in four consanguineous Pakistani families with autosomal recessive primary microcephaly. Methods As part of a large study to detect the genetic basis of primary microcephaly in Pakistan, homozygosity mapping and DNA sequencing was used to explore the genetic basis of autosomal recessive primary microcephaly in four families. Results Four out of 100 families recruited in the study revealed linkage to the MCPH2 locus on chromosome 19, which harbor WDR62 gene. DNA sequencing in these MCPH2 linked families result in the identification of a novel nonsense mutation (p.Q648X) and three previously known mutations. Conclusion Our data indicate that WDR62 mutations cause about 4% of autosomal recessive primary microcephaly in Pakistan.
Save time & money - Smart Internet Solutions     

Tango Jona
Tangokurs Rapperswil-Jona