This letter to the editor with reference to Mahalakshmi
(2023) provides two additional views. In a tech-savvy world study in this field is of importance yet there is a huge gap. Such study should ...also consider screen time engagement of hospitalized patients given their predisposed physical condition in addition to student survey. Genetic analysis should also be included along with the questionnaire and counselling-based surveys. Thus, considering the known study pipeline and focusing on the two afore-mentioned aspects such research should be considered as a "High Priority" area.
Coronaviruses are the well-known cause of severe respiratory, enteric and systemic infections in a wide range of hosts including man, mammals, fish, and avian. The scientific interest on ...coronaviruses increased after the emergence of Severe Acute Respiratory Syndrome coronavirus (SARS-CoV) outbreaks in 2002-2003 followed by Middle East Respiratory Syndrome CoV (MERS-CoV). This decade's first CoV, named 2019-nCoV, emerged from Wuhan, China, and declared as 'Public Health Emergency of International Concern' on January 30
th
, 2020 by the World Health Organization (WHO). As on February 4, 2020, 425 deaths reported in China only and one death outside China (Philippines). In a short span of time, the virus spread has been noted in 24 countries. The zoonotic transmission (animal-to-human) is suspected as the route of disease origin. The genetic analyses predict bats as the most probable source of 2019-nCoV though further investigations needed to confirm the origin of the novel virus. The ongoing nCoV outbreak highlights the hidden wild animal reservoir of the deadly viruses and possible threat of spillover zoonoses as well. The successful virus isolation attempts have made doors open for developing better diagnostics and effective vaccines helping in combating the spread of the virus to newer areas.
Coagulation factor VII (FVII) deficiency (OMIM 227500) is the most common of the rare hereditary coagulation disorders characterized by autosomal recessive inheritance with variable penetrance. The ...estimated incidence of coagulation factor VII deficiency is 1:500,000. Clinical heterogeneity is a special feature of this coagulation disorder, the severity of which ranges from severe to mild or even asymptomatic forms.
In the study were included three unrelated pediatric patients (3 female) with confirmed factor VII deficiency and members of their families (2 male and 2 female) Genetic analysis was carried out by next generation sequencing using Nextera XT, examining all exon and the exon/intron boundaries of F7 gene using a genetic analyzer MiSeq (Illumina, USA). All clinically significant observations were confirmed by Sanger sequencing.
We identified the pathogenic variant in all pediatric patients with factor VII deficiency in F7 gene. Four unique variants were identified: two missense mutation (c.1061C>T, p.Ala354Val; c.283G>A, p.Glu95Lys), one frameshift variant (c.1391delC, p.Pro464His fsTer32), one point mutation of proximal promoter region (c.1–32A>C). Genetic analysis indicated that patient 1 had heterozygous compound of maternal missense mutation c.1061 C > T and frameshift variant c.1391delC and paternal point mutation of proximal promoter region c.1–32A>C. Patient 2 was identified homozygous of two mutation c.1061C > T and c.1391delC, while her both parents were heterozygous of this mutations. In patient 3 was detected heterozygous compound of missense mutation c.1061C>Tand missense mutation c.283G > A. DNA samples of parents of patient 3 was unavailable for genetic analysis. All these variants have been previously reported in the EAHAD F7 databases, except for the missense variant c.283G > A, p. Glu95Lys, which is classified as variant of uncertain significance.
We have performed genetic analysis for the identification of pathogenic variants in coagulation factor VII deficiency patients for the first time in Belarus. Genetic analysis of coagulation factor VII deficiency patients is useful to confirm diagnosis, to determine the carrier status and genetic counseling.
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