Identification of Pathogenic Variants Causes Microcephaly In Sindh Families

 Introduction: The study was designed to identify the genetic mutation in families with autosomal recessive primary microcephaly (MCPH). Methodology: The present study was cross-sectional and conducted at the Department of Biochemistry, Quaid-e-Azam University, Islamabad in 2017. The two families (A and B) with MCPH phenotype randomly selected from Hyderabad and Tando Adam districts respectively. Informed written consent was taken, physical parameters were measured and blood samples were collected from both families. DNA was extracted from whole blood and PCR was performed. The ASPM gene located on chromosome 1 is known to play a vital role in mitotic spindle fiber regulation during neurogenesis, and also is the most probable causative agent of microcephaly. Therefore targeted Sanger sequencing method for the ASPM gene was selected for variant identification in both families. Results: The Sanger sequencing result showed the novel missense variant (c.5841T/C; p. K1862E) in 18 exon of ASPM gene in Family A  and this variant predicted as damaging in mutation tester, and provean and also exhibited deleterious in Polyphen 2 and SIFT public database. Similarly in family B we found a previously reported protein pre termination variant (c.3978G/A; p.Trp1326*) (rs137852995) in exon 17 of ASPM gene. The later mutation was most predominant cause of microcephaly in KPK families. Conclusion: Therefore it is concluded that mutation in the ASPM gene is the most prominent genetic player of Microcephaly in Pakistani families. The current study aids in the genetic analysis of MCPH phenotype families in Pakistan alongwith the counseling of MCPH families

Production of light (anti)nuclei in pp collisions at s \sqrt{s} = 13 TeV

Understanding the production mechanism of light (anti)nuclei is one of the key challenges of nuclear physics and has important consequences for astrophysics, since it provides an input for indirect dark-matter searches in space. In this paper, the latest results about the production of light (anti)nuclei in pp collisions at $\sqrt{s}$ = 13 TeV are presented, focusing on the comparison with the predictions of coalescence and thermal models. For the first time, the coalescence parameters B$_{2}$ for deuterons and B$_{3}$ for helions are compared with parameter-free theoretical predictions that are directly constrained by the femtoscopic measurement of the source radius in the same event class. A fair description of the data with a Gaussian wave function is observed for both deuteron and helion, supporting the coalescence mechanism for the production of light (anti)nuclei in pp collisions. This method paves the way for future investigations of the internal structure of more complex nuclear clusters, including the hypertriton.[graphic not available: see fulltext