Redcliffe Discovers Four Novel Variants in Four Genes Previously Implicated in Rare Neurological Disorders
New Delhi based Redcliffe Life Sciences identifies the novel genetic variants in four genes previously implicated in neurological disorders: congenital hyperinsulinism & hypoglycemia of infancy, KBG syndrome, Cystinuria and Smith-Magenis syndrome, by using Next Generation Sequencing based Clinical Exome Sequencing test to address the important health science questions such as genetic aetiology, mode of action and molecular function-based treatment options. Redcliffe Life Sciences’ Clinical Exome Sequencing test looks for more than 6000 genes at once. This study was performed on 15 individuals’ sharing of common clinical manifestations. Out of these 15 analysed cases, seven were males and eight were females with age ranging from 1 year to 31 years. The analysed patients’ had certain common features such as seizures, global developmental delay and intellectual disability. Other features include microcephaly, jaundice, visual impairment, hypotonia, slurred speech, dysmorphism, abnormal behaviour and primary hypothyroidism. Using RedCliffe Life Sciences’ curated clinical exome sequencing panel, precisely designed bioinformatics analysis pipeline along with the genotype-phenotype association; scientists with the help of clinicians identified four novel variants in ABCC8, ANKRD11, SLC3A1 and RAI1 genes among four individuals. These genes were found to be previously implicated in neurological disorders: congenital hyperinsulinism & hypoglycemia of infancy, KBG syndrome, cystinuria and Smith-Magenis syndrome, inherited in an autosomal dominant manner. Dr Deepika Kalo, lead scientist at Redcliffe Life Sciences states that ACMG guidelines were followed to report all these four novel variants, which were predicted to alter the protein structure and function. Out of four novel variants, 2 were classified as “termination” type, one was of “frameshift” and one was of missense type. All these identified novel variants were classified as “likely pathogenic” in these individuals. Ashish Dubey, co-founder at Redcliffe Life Sciences says, “neurological disorders are one of the prominent cause of death and health issues worldwide. Identification of novel variants will help researchers to enhance their understanding of neurological disorders, thus improving the present patient health care and discover new ways to create new methods for further health improvement.” Neurological disorders are diseases of the central and peripheral nervous system which includes brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscles. These disorders are characterized by numerous as well as variable phenotypes like epilepsy, seizures, global developmental delay, dementia, stroke, migraine, multiple sclerosis, neuro infections, and brain tumours.
