Telegenetics aids the diagnosis of Hunter syndrome caused due to a novel IDS variant in rural India, during COVID-19 pandemic

Abstract

The COVID-19 pandemic resulted in an expanded application of telemedicine globally. This enhanced connectivity also opened newer arenas of availability of super-specialty consultations in remote India. The current report highlights the details of a 15-month-old boy from a rural Maharashtra who was diagnosed with Hunter syndrome (HS i.e., mucopolysaccharidosis (MPS-II) via hybrid model of consultation involving telemedicine. The child was first evaluated by a paediatrician in-person, when he was suspected to have one of the MPS subtypes. This was followed by a virtual and an in-person consultation with the clinical geneticist, following which the suspicion for MPS was sharpened further. Exome sequencing identified a novel insertion in IDS gene c.1080_1081insGAATAA, p.Ile360_Phe361insGluTer confirming HS. The mother was identified to be a carrier for this X-linked disorder. The family was counselled about their available reproductive options for the future. The option of enzyme replacement therapy, as a potential lease of life, for improvement of the somatic symptoms, quality and longevity of life, was offered. However, due to the exorbitant lifelong expense that ERT entailed and the lifelong, weekly-injection schedule; the family declined this option. The report highlights the diagnostic journey of a child with HS, which spanned over barely two months following presentation to the specialist. It demonstrates how prudent integration of telemedicine services in resource-limited and pandemic-challenged settings, can help truncate the diagnostic odysseys often borne by patients of rare diseases. It also calls for attention to fill the existing gaps in meaningful healthcare directed towards rare diseases.