Ansar Ahmed Abbasi1,*, Kathrin Blasius2-4, Imtiaz Ahmed6, Hao Hu7, Sylvie Picker-Minh2-4,8, Muhammad Nasim Khan5, Khalid Hameed1, Aneela Gulnaz1, Zahid Latif5, Abdul Rauf5 and Angela M. Kaindl2-4,8
...n which were assessed by whole exome sequencing and cosegregation analysis. We identified a previously described mutation c.4802C>G (p.S1601*) in the ASPM gene in both families. This study further underlines that mutations in the ASPM gene are a common cause for microcephaly in the Pakistani population and updates our knowledge regarding the frequent involvement of ASPM in microcephaly.
...
Syeda Ain-ul-Batool1, Sadia1, Kathrin Blasius2,3,4, Angela Kaindl2,3,4 and Ghazanfar Ali1,*
... chromosome 7p14.3 using whole exome sequencing (WES). A splice acceptor site mutation (c.1131G>A) in exon 3 was revealed by Sanger sequencing.
...
Sajida Rasool1, Saba Irshad1*, Neelam Saba1, Mehak Fiaz1, Muhammad Sajid Hussain2, MuhammadWajid Hussain3 and Peter Nürnberg2
...ide linkage analysis and whole exome sequencing revealed a novel homozygous nonsense mutation (c.204T>G) in BICD2 gene which was predicted to yield a truncated protein product (p. Glu68*). This is first nonsense mutation being reported causing HSP with complex clinical features and early onset. Further, functional exploration will be required for genotype phenotype correlation.
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Hadia Gul1, Abdul Haleem Shah1, Ricardo Harripaul2, Anna Mikhailov2, Ejaz Ullah Khan3, Wasim Shah3, Nisar Ahmad3, John B Vincent2,4 and Muzammil Ahmad Khan3*
...y-descent (HBD) mapping, whole exome sequencing (for mutation identification) and Sanger sequencing (for variant segregation). Homozygosity analysis revealed a 1.2 Mb HBD region on chromosome 15 between markers rs4778147 to rs8036234 (chr15:27752745-28962131bp), which harbors the previously reported OCA2 gene. The subsequent whole exome sequencing identified a novel splice site defect at spice donor site, wherein G was repla...
Saima Mustafa1, Firdous Bukhari1, Muhammad Nazar Aftab1, Muhammad Asif1, Muhammad Amjad1, Maryam Ijaz1, Muhammad Latif2 and Furhan Iqbal1*
