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Genetic Diagnosis of Neurodevelopmental Disorders In India

Objectives: This ongoing study aims to decipher the phenotypic and genomic spectrum of neurodevelopmental disorders (NDDs) in India. Methods: A total of 440 families (473 individuals) with NDDs were recruited from October 2019 till February 2022. Genetic testing after detailed clinical evaluation was carried out. Results: The cohort comprises 289 males (61%) and 184 females (39%) from 180 consanguineous (41%) and 260 non-consanguineous (59%) families. Notably, 440 (93%) affected individuals are of the pediatric age group. Pathogenic variants were detected in 253 families (58%): 25 (9%) by targeted testing,16 (6%) by chromosomal microarray and 216 (85%) by exome sequencing. Overall, 197 monogenic disorders were identified in 238 families (94%) and 14 chromosomal disorders in 15 families (6%). Monogenic disorders comprised of 49 genetic syndromes (25%), 42 metabolic disorders (21%), 24 leukodystrophies (12%), 18 disorders with epilepsy as a core symptom (9%), 14 neuromuscular disorders (7%), 13 cerebellar disorders (7%), 4 with basal ganglia involvement (2%), 7 hereditary spastic paraplegias (4%) and 26 other heterogeneous (13%). Of these, 126 were autosomal recessive (59%), 66 autosomal dominant (31%), 18 X-linked (9%), and one with mitochondrial inheritance (1%). Significant phenotypic and genotypic insights of the cohort include (i) Five novel disease-gene associations (GCSH, PIDD1, TMEM163, KCNH5, SNRPN) (ii) Novel disease-causing variants in 146 (56%) families (iii) Four families with multiple genetic diagnoses and (iv) identification of probable founder variants (ISCA1, RNASEH2C, CYB5R3) in the Indian population. Conclusion: This ongoing study delineates a systematic cohort of genetic NDDs in the Indian subcontinent.

Anju Shukla
Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
India

Purvi Majethia
Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
India

Michelle Do Rosario
Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
India

Lakshmi Priya Rao
Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
India

Shruti Pande
Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
India

Karthik Nair
Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
India

Bhagesh Hunakunti
Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
India

Dhanya Lakshmi Narayanan
Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
India

Shrikiran Aroor
Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
India

Ramesh Bhat Y
Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
India

Leslie Lewis
Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
India

Suvasini Sharma
Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India
India

Praveen Bk
Father Muller Medical College Hospital, Mangalore, India
India

Yatheesha Bl
Dheemahi Child Neurology and Development center, Shimoga, Karnataka, India
India

Sj Patil
Narayana Hrudayalaya Hospitals/ Mazumdar-Shaw Medical Center, Bangalore, India
India

Nutan Kamath
Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, India
India

Sheela Nampoothiri
Amrita Institute of Medical Sciences & Research Centre, Cochin, India
India

Shruti Bajaj
The Purple Gene Clinic, Mumbai, India
India

Sankar V H
Department of Paediatrics, SAT Hospital, Govt. Medical College, Trivandrum, India
India

Kamalakshi G Bhat
Department of Paediatrics, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, India
India

Harsha Prasad
Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, India
India

Sunita Bijarnia-Mahay
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
India

Ratna Dua Puri
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
India

Hitesh Shah
Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
India

Rakshith Kedambadi
First Neuro Brain & Spine Super Speciality Hospital, Mangalore, India
India

Ali Kumble
Indiana Children Institute, Indiana Hospital, Mangalore, India
India

Santhosh Soans
A.J. Hospital and Research Centre, Mangalore, India
India

Vijay Kumar
Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
India

Naveen Sankhyan
Advanced Pediatrics Centre, Postgraduate Institute of Medical Education & Research, Chandigarh, India
India

Ravi K R
Narayana Multispecialty Clinic, Shimoga, Karnataka, India
India

Aparna Pai
Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
India

Dushyanth Babu Jasti
Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
India

Shahyan Siddiqui
STAR Institute of Neurosciences, STAR Hospitals, Hyderabad, India
India

Rajagopal Kadavigere
Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
India

M.l. Kulkarni
Jagadguru Jayadeva Muragharajendra (JJM) Medical College, Davangere, Karnataka, India
India

Katta Mohan Girisha
Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
India

Stephanie Bielas
University of Michigan Medical School, Ann Arbor, Michigan, USA
United States

 


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