THE GENETIC PUZZLE: A CASE OF NOONAN SYNDROME WITH A NOVEL RAF1 MUTATION IN INDIA AND THE CHALLENGES OF DIAGNOSIS AND MANAGEMENT
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Keywords
Noonan Syndrome; dysmorphism, mutation; RAF1 gene; hypertrophic cardiomyopathy.
Abstract
We present a 17-month-old toddler with failure to thrive, developmental delay, characteristic facial dysmorphism, and a cardiac murmur suggestive of Noonan Syndrome. Echocardiography revealed hypertrophic cardiomyopathy, and molecular genetic testing confirmed the diagnosis, identifying a previously unreported RAF1 gene mutation (p.Thr260Lys) in India. The child was initiated on beta-blockers and received feeding advice, resulting in modest growth improvement over two months. Genetic testing further emphasized the importance of cascade screening. The child continues to receive multidisciplinary follow-up care under Paediatric OPD , Indira Gandhi Hospital, Dwarka. This case highlights the clinical significance of molecular testing in confirming Noonan Syndrome, particularly in cases with atypical or novel mutations. It also reflects the practical challenges faced by paediatricians in resource-limited healthcare settings, where barriers such as lack of awareness, financial constraints, and limited availability of genetic testing persist. Despite these limitations, genetic confirmation not only refines diagnosis and management but also provides valuable insight into at-risk individuals through family screening. Early recognition and comprehensive management can substantially improve outcomes and quality of life in affected children. Furthermore, the emotional, financial, and social stress experienced by caregivers of children with rare genetic disorders must be acknowledged, with the establishment of support systems to help families navigate these challenges.
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Dr Brijesh Kumar
1Assistant Professor, Department of Pediatrics, ESIC Medical College and Hospital, Alwar, Rajasthan, India
Dr Jatin Haritash
Post Graduate Resident, Department of Pediatrics, Shri Dada Dev Matri Avum Shishu Chikitsalaya, Dabri, New Delhi, India
Dr Jatin Prajapati
3Post Graduate Resident, Department of Community Medicine, RNT Medical College, Udaipur, Rajasthan, India
Orcid ID: https://orcid.org/0009-0004-7298-4499