A child with tuberous sclerosis having Novel NRAS gene mutation
Tuberous sclerosis (TS) is a rare genetic disorder of autosomal-dominant inheritance. Mutations on either of the two genes Tuberous Sclerosis Complex 1 (TSC1) or Tuberous Sclerosis Complex 2 (TSC2) will lead to hamartomas formation involving many organs, such as the brain, heart, kidneys, skin, lung...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2025-07-01
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| Series: | Journal of Family Medicine and Primary Care |
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| Online Access: | https://journals.lww.com/10.4103/jfmpc.jfmpc_1917_24 |
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| author | P. N. Liveinai Neeraj Kumar Jyoti Kadian Dinkar Yadav Kapil Bhalla |
| author_facet | P. N. Liveinai Neeraj Kumar Jyoti Kadian Dinkar Yadav Kapil Bhalla |
| author_sort | P. N. Liveinai |
| collection | DOAJ |
| description | Tuberous sclerosis (TS) is a rare genetic disorder of autosomal-dominant inheritance. Mutations on either of the two genes Tuberous Sclerosis Complex 1 (TSC1) or Tuberous Sclerosis Complex 2 (TSC2) will lead to hamartomas formation involving many organs, such as the brain, heart, kidneys, skin, lungs, and liver. This case report is about an 11-month-old boy with epilepsy and hypomelanotic macules. MRI of the brain showed cortical tubers and subependymal nodule which confirms the diagnosis of Tuberous Sclerosis. Genetic analysis by Whole Exome Sequencing showed a novel genetic mutation in NRAS gene suggestive of Noonan syndrome-6. |
| format | Article |
| id | doaj-art-c9be1f7ac63d420cbf464a1567cb53e8 |
| institution | Kabale University |
| issn | 2249-4863 2278-7135 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Family Medicine and Primary Care |
| spelling | doaj-art-c9be1f7ac63d420cbf464a1567cb53e82025-08-20T04:02:28ZengWolters Kluwer Medknow PublicationsJournal of Family Medicine and Primary Care2249-48632278-71352025-07-011473022302410.4103/jfmpc.jfmpc_1917_24A child with tuberous sclerosis having Novel NRAS gene mutationP. N. LiveinaiNeeraj KumarJyoti KadianDinkar YadavKapil BhallaTuberous sclerosis (TS) is a rare genetic disorder of autosomal-dominant inheritance. Mutations on either of the two genes Tuberous Sclerosis Complex 1 (TSC1) or Tuberous Sclerosis Complex 2 (TSC2) will lead to hamartomas formation involving many organs, such as the brain, heart, kidneys, skin, lungs, and liver. This case report is about an 11-month-old boy with epilepsy and hypomelanotic macules. MRI of the brain showed cortical tubers and subependymal nodule which confirms the diagnosis of Tuberous Sclerosis. Genetic analysis by Whole Exome Sequencing showed a novel genetic mutation in NRAS gene suggestive of Noonan syndrome-6.https://journals.lww.com/10.4103/jfmpc.jfmpc_1917_24hypomelanotic maculesnoonan syndromesubependymal nodulesvigabatrin |
| spellingShingle | P. N. Liveinai Neeraj Kumar Jyoti Kadian Dinkar Yadav Kapil Bhalla A child with tuberous sclerosis having Novel NRAS gene mutation Journal of Family Medicine and Primary Care hypomelanotic macules noonan syndrome subependymal nodules vigabatrin |
| title | A child with tuberous sclerosis having Novel NRAS gene mutation |
| title_full | A child with tuberous sclerosis having Novel NRAS gene mutation |
| title_fullStr | A child with tuberous sclerosis having Novel NRAS gene mutation |
| title_full_unstemmed | A child with tuberous sclerosis having Novel NRAS gene mutation |
| title_short | A child with tuberous sclerosis having Novel NRAS gene mutation |
| title_sort | child with tuberous sclerosis having novel nras gene mutation |
| topic | hypomelanotic macules noonan syndrome subependymal nodules vigabatrin |
| url | https://journals.lww.com/10.4103/jfmpc.jfmpc_1917_24 |
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