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<p>Rare neurogenetic and neurometabolic disorders comprise a clinically and genetically heterogeneous group of conditions, frequently presenting with overlapping neurological manifestations such as developmental delay, seizures, and cognitive impairment. Whole-exome sequencing (WES) has emerged as a robust approach for elucidating the molecular basis of these disorders.&#xa0;A total of 184 patients with suspected rare neurological disorders were enrolled in this study. Detailed demographic and clinical data were collected, and WES was performed to identify pathogenic and likely pathogenic variants. Variants were annotated and interpreted using standard guidelines, and inheritance patterns were determined.&#xa0;The cohort showed a slight male predominance, with the majority of cases presenting in early childhood (mean age at onset: 29.62 ± 27.69 months). The most common clinical features included developmental delay (82.06%), seizures (74.4%), and cognitive decline (41.3%), followed by dystonia (25%) and ataxia (17.9%). This study delineates the genetic spectrum of rare neurogenetic and neurometabolic disorders in a clinically heterogeneous cohort and underscores the diagnostic utility of WES. Early implementation of genomic testing can facilitate accurate diagnosis, guide clinical management, and improve genetic counseling in affected individuals.</p>

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Genetic spectrum of rare neurogenetic and neurometabolic disorders in a clinically heterogeneous cohort: insights from whole-exome sequencing

  • 期刊论文

  • 发表日期：

    2026年5月30日

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  • Jasodhara Chaudhuri,
  • Dipanwita Sadhukhan,
  • Amrita Karmakar,
  • Joydeep Mukherjee,
  • Soma Gupta,
  • Saranya Roy,
  • Kallol Das,
  • Shashi Shekhar Jayswal,
  • Debasis Maity,
  • Souvik Mondal,
  • Bonny Sen,
  • Akash Manna,
  • Manamita Mandal,
  • Kartik Chandra Ghosh,
  • Samar Biswas,
  • Amar Kumar Mishra,
  • Gautam Gangully,
  • Atanu Biswas,
  • Priyankar Pal,
  • Apurba Ghosh,
  • Arindam Biswas

摘要

Rare neurogenetic and neurometabolic disorders comprise a clinically and genetically heterogeneous group of conditions, frequently presenting with overlapping neurological manifestations such as developmental delay, seizures, and cognitive impairment. Whole-exome sequencing (WES) has emerged as a robust approach for elucidating the molecular basis of these disorders. A total of 184 patients with suspected rare neurological disorders were enrolled in this study. Detailed demographic and clinical data were collected, and WES was performed to identify pathogenic and likely pathogenic variants. Variants were annotated and interpreted using standard guidelines, and inheritance patterns were determined. The cohort showed a slight male predominance, with the majority of cases presenting in early childhood (mean age at onset: 29.62 ± 27.69 months). The most common clinical features included developmental delay (82.06%), seizures (74.4%), and cognitive decline (41.3%), followed by dystonia (25%) and ataxia (17.9%). This study delineates the genetic spectrum of rare neurogenetic and neurometabolic disorders in a clinically heterogeneous cohort and underscores the diagnostic utility of WES. Early implementation of genomic testing can facilitate accurate diagnosis, guide clinical management, and improve genetic counseling in affected individuals.