A Welcome Note from the Editor

We are delighted and proud to welcome you to the second issue of Volume 2. Each article received and accepted is an important contribution to the already existing knowledge in the field of Biomedical Sciences. All the editorial team is excited about the progress of PBMJ as an international journal. As editors, we would like to express our heartiest congratulation to the team and welcome to the authors and readers. We are also grateful to the advisory board and managing editors. We hope that PBMJ can promote the academic and applicable research and improve the research activities and collaborations. We are aware of the bumps along the way, but we are determined to keep pursuing the research goals to meet the high quality standards and move forward with great courage. If you have any suggestions to improve, you may write to us as a reader. In the age of technology, we can actively conversate with the readers and get their feedback to improve the quality with their valuable input. PBMJ will continue to serve the Biomedical Sciences as an outlet for high-quality research. This is an exciting time for the journal and we look forward to working with authors, the Editorial board and the team to make PBMJ as a leading source for work in the space.

Molecular Characterization of Rare Genodermatoses in Pakistani Families.

Genodermatoses include a large group of inherited dermatological disorders that is often present with multisystem involvement resulting in various clinical manifestations due to genetic heterogeneity with pathogenic variations in more than 500 genes. Most genodermatoses occur early, during the neonatal period, infancy or early childhood, some conditions may appear later in life during adolescence or adulthood. Diagnosis of genodermatoses has been a major challenge and requires both clinical and investigational correlation to reach a diagnosis. Sometimes, even with comprehensive investigations, a definitive diagnosis cannot be achieved. With the arrival of new investigational. methods such as next generation sequencing, which not only successfully identified the molecular basis of many genodermatoses but also play important role in clinical use to help in the diagnosis of patients with suspected genodermatoses. In the current study, whole exome sequencing and Sanger sequencing were used to investigate genetic defects of nine Pakistani families affected with pseudoxanthoma elasticum (Families: A and B) and epidermolysis bullosa (Families: C,D E,F,G,H,I). Whole exome sequencing identified a novel homozygous frameshift variant (c.1799_1805dupGTCTGGT; p. Thr603fs*11) in ABCC6 in family A, a compound heterozygous variant (c.2294G>A; p.Arg765Gln and c.2974G>A; p.Gly992Arg) in ABCC6 in family B, a single nucleotide insertion variant (c.151insG; p.Gln226fs*) in LAMA3 in family C, two novel missense variants c.1285G>T (p.Asp429Tyr) and c.3373G>A (p.Gly1125Ser) in ITGB4 in family D, a novel homozygous missense variant c.1828A>G (p.Arg610Gly) in PLEC in family E, a heterozygous missense variant c.6209G>A (p.Gly2070Glu) in COL7A1 in family F, a homozygous frameshift variant c.676dupC (p.Gln226fs) in FERMT1 in family G, a homozygous nonsense variant c. C1705T in LAMB3 in family H and a homozygous nonsense variant c.C1573T (p.R525X) in COL7A1 in family I. In conclusion, two families affected with pseudoxanthoma elasticum and seven families affected with epidermolysis bullosa were identified with novel variants in ABCC6, ITGB4, and PLEC1. It should be assistive in the genetic counseling and prenatal diagnosis of the families as well as for the designing of improved diagnostic and therapeutic approaches.