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Next-Generation Sequencing in Unexplained Intellectual Disability.

Sapna Sandal1, Ishwar Chander Verma1, Sunita Bijarnia Mahay1

  • 1Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

Indian Journal of Pediatrics
|October 7, 2023
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing (NGS) offers a high diagnostic yield for intellectual disability (ID) in Indian patients. This genetic testing approach identifies causative variants, guiding clinical management and reproductive choices for families.

Keywords:
Autosomal recessive intellectual disabilityDevelopmental delayIntellectual disabilityNext generation sequencing

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Area of Science:

  • Genetics
  • Genomic Medicine
  • Pediatric Neurology

Background:

  • Intellectual disability (ID) affects a significant portion of the population, often with an unknown genetic cause after conventional testing.
  • Understanding the genetic basis of ID is crucial for accurate diagnosis, management, and genetic counseling.
  • Data on the molecular genetic spectrum of ID in India is limited.

Purpose of the Study:

  • To evaluate the diagnostic yield of next-generation sequencing (NGS) for intellectual disability (ID) unexplained by standard genetic tests.
  • To assess the impact of a definitive genetic diagnosis on clinical management and family genetic counseling.
  • To investigate the genetic heterogeneity and common inheritance patterns of ID in an Indian cohort.

Main Methods:

  • A bi-directional study involving 227 patients (126 prospective, 101 retrospective) with moderate to profound ID.
  • Next-generation sequencing (NGS) based genetic tests were performed on all participants.
  • Statistical analysis, including Fisher's exact test, was used to compare diagnostic yields between patient groups.

Main Results:

  • The overall diagnostic yield of NGS was 53.3% (121/227), identifying causative variants in 84 known ID genes.
  • Autosomal recessive intellectual disability (ARID) was the most frequent genetic cause (23.3%), followed by autosomal dominant ID (ADID) (20.7%) and X-linked ID (XLID) (9.2%).
  • Diagnostic yield was significantly higher in patients with ID plus associated conditions (55.6%) compared to isolated ID (20%).
  • Definitive diagnoses impacted clinical management in 14% and reproductive outcomes in 21.4% of families.

Conclusions:

  • NGS is highly effective in diagnosing intellectual disability (ID) of unknown etiology in the Indian population.
  • Autosomal recessive intellectual disability (ARID) is a prevalent cause of ID in this cohort.
  • Establishing a genetic diagnosis through NGS significantly influences clinical management and family reproductive planning, underscoring the importance of genetic testing and phenotype correlation.