Individuals have been reported to be carrier of one or more founder mutations, each associated with a specific inherited disease. Such founder mutations are known to contribute to a higher risk and prevalence of genetic disorders in a particular population (Agarwal/Agrawal community). 4-in-1 panel test for founder mutations associated with following diseases:
Limb-Girdle Muscular Dystrophy (LGMD) is a descriptive term applied to a clinically and genetically heterogeneous group of childhood or adult onset muscular dystrophies. Individuals with LGMD in general, have elevated serum creatine kinase (CK) levels and an abnormal muscle biopsy with dystrophic changes. The average age of onset of LGMD is 8-15 years. LGMD2A is a subtype of LGMDs which is also referred to as calpainopathy. It is an autosomal recessive disease caused by pathogenic variants in the CAPN3 gene and is one of the most frequent forms of LGMD. Megalencephalic Leukoencephalopathy (MLC) with subcortical cysts is a progressive condition that affects brain development and function. A distinct clinical syndrome characterized by megalencephaly, mild to moderate cognitive decline, slowly progressive spasticity, ataxia, occasional seizures, and extensive white matter changes with temporal cysts by imaging studies has been described in a particular ethnic group in India. the MLC1 gene.
Heme Oxygenase-1 (HO-1) Deficiency (HMOX1D) is characterized by inadequate expression or functioning of the Heme oxygenase-1 (HO-1) enzyme. HO-1 is a stress-induced enzyme that catalyzes the oxidation of heme to biliverdin. The clinical presentation of HMOX1D includes growth delay, anaemia, leukocytosis, thrombocytosis, coagulation abnormality and hyperlipidemia. Pathogenic variants in the HMOX1 gene cause HMOX1D.
Hallervorden-Spatz Disease (HSD) is an autosomal recessive inherited neurodegenerative disorder with an onset at late childhood or early adolescence. HSD is characterized by progressive dementia, spasticity, rigidity, dystonia, choreoathetosis and pigmentary retinopathy. Pathogenic variants PANK2 gene cause HSD.