Genomic exploration of pediatric neurological disorders: a case series
Abstract Background Pediatric neurological disorders include neurodegenerative diseases causing cognitive impairment and vision loss. They are one of the important causes of morbidity and mortality in children with diverse etiologies. Diagnosis is difficult despite genetic work, and a final diagnosi...
Saved in:
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-01-01
|
| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13256-025-05052-1 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832571696179052544 |
|---|---|
| author | Naresh Tayade Gautham Manoj Akshay Kewat Anjali Krishna A Rajiv Devulapalli Somesh Kumar Sunil Kumar Polipalli Bipin G. Nair Obul Reddy Bandapalli Prashanth Suravajhala |
| author_facet | Naresh Tayade Gautham Manoj Akshay Kewat Anjali Krishna A Rajiv Devulapalli Somesh Kumar Sunil Kumar Polipalli Bipin G. Nair Obul Reddy Bandapalli Prashanth Suravajhala |
| author_sort | Naresh Tayade |
| collection | DOAJ |
| description | Abstract Background Pediatric neurological disorders include neurodegenerative diseases causing cognitive impairment and vision loss. They are one of the important causes of morbidity and mortality in children with diverse etiologies. Diagnosis is difficult despite genetic work, and a final diagnosis can be achieved in only 60% of cases. Case presentation We explore three Indian cases of pediatric neurological diseases (with age presented at the clinic), viz. arthrogryposis (8 years), autism (18 months), and congenital bilateral cataract (3 years), by analyzing clinical exomes. In this work, we attempt to understand rare neurological disorders in an Indian pediatric cohort using exome studies. Conclusion We used our benchmarked CONVEX pipeline for screening consensus variants, wherein EIF2B2 was found to be inherently pathogenic. We map the association of variants and genes and disease correlation to neuroleptic malignant syndrome, which matches the phenotype to the cases. |
| format | Article |
| id | doaj-art-fd152057693a482e8af843584d198386 |
| institution | Kabale University |
| issn | 1752-1947 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj-art-fd152057693a482e8af843584d1983862025-02-02T12:25:47ZengBMCJournal of Medical Case Reports1752-19472025-01-011911710.1186/s13256-025-05052-1Genomic exploration of pediatric neurological disorders: a case seriesNaresh Tayade0Gautham Manoj1Akshay Kewat2Anjali Krishna A3Rajiv Devulapalli4Somesh Kumar5Sunil Kumar Polipalli6Bipin G. Nair7Obul Reddy Bandapalli8Prashanth Suravajhala9Department of Pediatrics, Dr Panjabrao Deshmukh Medical College Amravati and Life Care HospitalsAmrita School of Biotechnology, Amrita Vishwa VidyapeethamAmrita School of Biotechnology, Amrita Vishwa VidyapeethamAmrita School of Biotechnology, Amrita Vishwa VidyapeethamBioclues.orgGenome Sequencing Centre, Maulana Azad Medical CollegeGenome Sequencing Centre, Maulana Azad Medical CollegeAmrita School of Biotechnology, Amrita Vishwa VidyapeethamGenome Sequencing Centre, Maulana Azad Medical CollegeDepartment of Pediatrics, Dr Panjabrao Deshmukh Medical College Amravati and Life Care HospitalsAbstract Background Pediatric neurological disorders include neurodegenerative diseases causing cognitive impairment and vision loss. They are one of the important causes of morbidity and mortality in children with diverse etiologies. Diagnosis is difficult despite genetic work, and a final diagnosis can be achieved in only 60% of cases. Case presentation We explore three Indian cases of pediatric neurological diseases (with age presented at the clinic), viz. arthrogryposis (8 years), autism (18 months), and congenital bilateral cataract (3 years), by analyzing clinical exomes. In this work, we attempt to understand rare neurological disorders in an Indian pediatric cohort using exome studies. Conclusion We used our benchmarked CONVEX pipeline for screening consensus variants, wherein EIF2B2 was found to be inherently pathogenic. We map the association of variants and genes and disease correlation to neuroleptic malignant syndrome, which matches the phenotype to the cases.https://doi.org/10.1186/s13256-025-05052-1Rare conditionsNeurological disordersAutismArthrogryposisBilateral cataractCase report |
| spellingShingle | Naresh Tayade Gautham Manoj Akshay Kewat Anjali Krishna A Rajiv Devulapalli Somesh Kumar Sunil Kumar Polipalli Bipin G. Nair Obul Reddy Bandapalli Prashanth Suravajhala Genomic exploration of pediatric neurological disorders: a case series Journal of Medical Case Reports Rare conditions Neurological disorders Autism Arthrogryposis Bilateral cataract Case report |
| title | Genomic exploration of pediatric neurological disorders: a case series |
| title_full | Genomic exploration of pediatric neurological disorders: a case series |
| title_fullStr | Genomic exploration of pediatric neurological disorders: a case series |
| title_full_unstemmed | Genomic exploration of pediatric neurological disorders: a case series |
| title_short | Genomic exploration of pediatric neurological disorders: a case series |
| title_sort | genomic exploration of pediatric neurological disorders a case series |
| topic | Rare conditions Neurological disorders Autism Arthrogryposis Bilateral cataract Case report |
| url | https://doi.org/10.1186/s13256-025-05052-1 |
| work_keys_str_mv | AT nareshtayade genomicexplorationofpediatricneurologicaldisordersacaseseries AT gauthammanoj genomicexplorationofpediatricneurologicaldisordersacaseseries AT akshaykewat genomicexplorationofpediatricneurologicaldisordersacaseseries AT anjalikrishnaa genomicexplorationofpediatricneurologicaldisordersacaseseries AT rajivdevulapalli genomicexplorationofpediatricneurologicaldisordersacaseseries AT someshkumar genomicexplorationofpediatricneurologicaldisordersacaseseries AT sunilkumarpolipalli genomicexplorationofpediatricneurologicaldisordersacaseseries AT bipingnair genomicexplorationofpediatricneurologicaldisordersacaseseries AT obulreddybandapalli genomicexplorationofpediatricneurologicaldisordersacaseseries AT prashanthsuravajhala genomicexplorationofpediatricneurologicaldisordersacaseseries |