Genetic analysis of a Fanconi anemia case revealed the presence of FANCF mutation (exon 1;469>C-T) with implications to develop acute myeloid leukemia.

BACKGROUND: Fanconi anemia (FA) is a rare genetic disorder and one of the most common inherited forms of aplastic anemia. FA is an autosomal recessive or X-linked genetic disorder that is characterized by typical physical malformations and haematopoietic anomalies. In most cases of FA, patients harbor homozygous or double heterozygous mutations in the FANCA (60-65%), FANCC (10-15%), FANCG (~ 10%), FANCD2 (3-6%) or FANCF (2%) genes in different ethnic populations, which leads to inherited bone marrow failure (IBMF). Hence, it is important to screen such mutations in correlation with clinical manifestations of FA in various ethnic populations. APPROACH: An 11 year old female pediatric patient of an East India family was presented with febrile illness, having thrombocytopenia with positive dengue IgM (Immunoglobulin M) and treated as a case of dengue hemorrhagic fever at the initial stage of diagnosis. Chromosomal breakage study was performed based on the abnormal physical examination, which showed 100% breaks, triradials, and quadrilaterals in mitomycin (MMC)-induced peripheral blood lymphocyte culture. Importantly, conventional cytogenetic assay in most of the bone marrow cells revealed an additional gain in chromosome 3q+ [46,XX,add(3)(q25)] and terminal loss in chr8p- [46,XX,del(8)(p23)], which might have a prognostic relevance in the outcomes of the FA patient. The bone marrow aspiration and biopsy were repeated and the results showed acute leukemia with 39% blast cells. Whole-genome sequencing analysis of the patient confirmed the presence of (exon 1; 496 > C-T) non-sense mutation leading to a truncated FANCF protein attributed to a stop codon at the amino acid position 166. CONCLUSION: The study reported the presence of a homozygous C-T exon 1 mutation in FANCF gene in the female pediatric patient from Odisha, India associated with FA. Furthermore, both parents were found to be carriers of FANCF gene mutation, as this allele was found to be in heterozygous state upon genome sequencing. The pathogenicity of the agent was robustly supported by the clinical phenotype and biochemical observations, wherein the patient eventually developed acute myeloid leukemia. The findings of the study infer the importance of early detection of FA and the associated mutations, which might lead to the development of acute myeloid leukemia.

Implications of biosensors and nanobiosensors for the eco-friendly detection of public health and agro-based insecticides: A comprehensive review.

Biosensors, in particular nanobiosensors, have brought a paradigm shift in the detection approaches involved in healthcare, agricultural, and industrial sectors. In accordance with the global expansion in the world population, there has been an increase in the application of specific insecticides for maintaining public health and enhancing agriculture, such as organophosphates, organochlorines, pyrethroids, and carbamates. This has led to the contamination of ground water, besides increasing the chances of biomagnification as most of these insecticides are non-biodegradable. Hence, conventional and more advanced approaches are being devised for the routine monitoring of such insecticides in the environment. This review walks through the implications of biosensors and nanobiosensors, which could offer a wide range of benefits for the detection of the insecticides, quantifying their toxicity status, and versatility in application. Unique eco-friendly nanobiosensors such as microcantilevers, carbon nanotubes, 3D printing organic materials and nylon nano-compounds are some advanced tools that are being employed for the detection of specific insecticides under different conditions. Furthermore, in order to implement a smart agriculture system, nanobiosensors could be integrated into mobile apps and GPS systems for controlling farming in remote areas, which would greatly assist the farmer remotely for crop improvement and maintenance. This review discusses about such tools along with more advanced and eco-friendly approaches that are on the verge of development and could offer a promising alternative for analyte detection in different domains.