Genetic Analysis of Neuroligin 4Y Gene in Autism Population of India
Background Autism is one of the most complex, heterogeneous neurological disorders. It is characterized mainly by abnormal communication, impaired social interaction, and restricted behaviors. Prevalence of autism is not clear in Indian population. Aim The present study hypothesized that...
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| Format: | Article |
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Georg Thieme Verlag KG
2022-03-01
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| Series: | Global Medical Genetics |
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| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1736236 |
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| author | Rajat Hegde Smita Hegde Suyamindra S. Kulkarni Aditya Pandurangi Pramod B. Gai Kusal K. Das |
| author_facet | Rajat Hegde Smita Hegde Suyamindra S. Kulkarni Aditya Pandurangi Pramod B. Gai Kusal K. Das |
| author_sort | Rajat Hegde |
| collection | DOAJ |
| description | Background Autism is one of the most complex, heterogeneous neurological disorders. It is characterized mainly by abnormal communication, impaired social interaction, and restricted behaviors. Prevalence of autism is not clear in Indian population.
Aim The present study hypothesized that Y chromosome plays role in sex bias of autism in Indian autistic population. To investigate our hypothesis, we underwent genetic analysis of neuroligin 4Y [NLGN4Y] gene by sequencing 85 male autistic children after screening large population of 1,870 mentally ill children from North Karnataka region of India.
Result Detailed sequencing of the single targeted gene revealed nine variants including, one novel missense mutation and eight synonymous variants; this accounts for 88.9% of synonymous variants. A single novel missense mutation is predicted to be nonpathogenic on the functions of neuroligin4Y protein but it slightly affects the local configuration by altering the original structure of a protein by changing charge and size of amino acid.
Conclusion Probably NLGN4Y gene may not be the risk factor for autism in male children in Indian autistic population. Functional analysis was an important limitation of our study. Therefore, detailed functional analysis is necessary to determine the exact role of novel missense mutation of neuroligin 4Y [NLGN4Y] gene especially in the male predominance of autism in Indian autistic population. |
| first_indexed | 2024-04-12T11:22:03Z |
| format | Article |
| id | doaj.art-30098f0c87d349c5be09ef814a408762 |
| institution | Directory Open Access Journal |
| issn | 2699-9404 |
| language | English |
| last_indexed | 2024-04-12T11:22:03Z |
| publishDate | 2022-03-01 |
| publisher | Georg Thieme Verlag KG |
| record_format | Article |
| series | Global Medical Genetics |
| spelling | doaj.art-30098f0c87d349c5be09ef814a4087622022-12-22T03:35:21ZengGeorg Thieme Verlag KGGlobal Medical Genetics2699-94042022-03-01090101802210.1055/s-0041-1736236Genetic Analysis of Neuroligin 4Y Gene in Autism Population of IndiaRajat Hegde0Smita Hegde1Suyamindra S. Kulkarni2Aditya Pandurangi3Pramod B. Gai4Kusal K. Das5Laboratory of Vascular Physiology and Medicine, Department of Physiology, Shri B.M. Patil Medical College, Hospital and Research Centre, BLDE (Deemed to be University), Vijayapura, Karnataka, IndiaKarnataka Institute for DNA Research, Dharwad, Karnataka, IndiaKarnataka Institute for DNA Research, Dharwad, Karnataka, IndiaDepartment of Psychiatry, Dharwad Institute of Mental Health and Neurosciences, Dharwad, Karnataka, IndiaKarnataka Institute for DNA Research, Dharwad, Karnataka, IndiaLaboratory of Vascular Physiology and Medicine, Department of Physiology, Shri B.M. Patil Medical College, Hospital and Research Centre, BLDE (Deemed to be University), Vijayapura, Karnataka, IndiaBackground Autism is one of the most complex, heterogeneous neurological disorders. It is characterized mainly by abnormal communication, impaired social interaction, and restricted behaviors. Prevalence of autism is not clear in Indian population. Aim The present study hypothesized that Y chromosome plays role in sex bias of autism in Indian autistic population. To investigate our hypothesis, we underwent genetic analysis of neuroligin 4Y [NLGN4Y] gene by sequencing 85 male autistic children after screening large population of 1,870 mentally ill children from North Karnataka region of India. Result Detailed sequencing of the single targeted gene revealed nine variants including, one novel missense mutation and eight synonymous variants; this accounts for 88.9% of synonymous variants. A single novel missense mutation is predicted to be nonpathogenic on the functions of neuroligin4Y protein but it slightly affects the local configuration by altering the original structure of a protein by changing charge and size of amino acid. Conclusion Probably NLGN4Y gene may not be the risk factor for autism in male children in Indian autistic population. Functional analysis was an important limitation of our study. Therefore, detailed functional analysis is necessary to determine the exact role of novel missense mutation of neuroligin 4Y [NLGN4Y] gene especially in the male predominance of autism in Indian autistic population.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1736236autismneuroligin 4yindianovel missense mutationmale predominance |
| spellingShingle | Rajat Hegde Smita Hegde Suyamindra S. Kulkarni Aditya Pandurangi Pramod B. Gai Kusal K. Das Genetic Analysis of Neuroligin 4Y Gene in Autism Population of India Global Medical Genetics autism neuroligin 4y india novel missense mutation male predominance |
| title | Genetic Analysis of Neuroligin 4Y Gene in Autism Population of India |
| title_full | Genetic Analysis of Neuroligin 4Y Gene in Autism Population of India |
| title_fullStr | Genetic Analysis of Neuroligin 4Y Gene in Autism Population of India |
| title_full_unstemmed | Genetic Analysis of Neuroligin 4Y Gene in Autism Population of India |
| title_short | Genetic Analysis of Neuroligin 4Y Gene in Autism Population of India |
| title_sort | genetic analysis of neuroligin 4y gene in autism population of india |
| topic | autism neuroligin 4y india novel missense mutation male predominance |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0041-1736236 |
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