Detection of Clinically Relevant Copy Number Variation of SEZ6L2 Gene in a Bangladeshi Autism Spectrum Disorder Cohort

  • KM Furkan Uddin Dept. of Biochemistry, Holy Family Red Crescent Medical College, Dhaka, Bangladesh
  • Md Robed Amin Department of Medicine, Dhaka Medical College and hospital, Dhaka, Bangladesh
  • Nasima Sultana Department of Biochemistry, Dhaka Medical College, Dhaka, Bangladesh
  • Md Abdul Aleem International Centre for Diarrhoeal Disease Research, Bangladesh
  • Suprovath Kumar Sarker Institute of Developing Science & Initiatives, Bangladesh
  • Laila Anjuman Banu Deprtment of Anatomy, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh
  • Mohammad Shaheb Ali Ministry of Health and Family Affairs, Bangladesh
  • Wahida Khanam Institute of Child and Maternal Health, Dhaka, Bangladesh
  • Narsis Rahman Institute of Child and Maternal Health, Dhaka, Bangladesh
  • Md Abdul Baqui Dept. of Biochemistry, Holy Family Red Crescent Medical College, Dhaka, Bangladesh
  • Hosneara Akter Department of Genetics and Genome Biology, NeuroGen Technologies Ltd., Dhaka, Bangladesh
  • Nushrat Jahan Dity Department of Genetics and Genome Biology, NeuroGen Technologies Ltd., Dhaka, Bangladesh
  • Md AB Ziauddin Hossain Dept. of Botany, Chittagong University, Chittagong, Bangladesh
Keywords: Detection of Clinically, SEZ6L2 Gene

Abstract

Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder. Due to long term impairment, high genetic component (heritability> 90%), lack of effective prevention and treatment, ASD has been prioritized for genetic studies. Studies on Copy Number Variations (CNV) at chromosome 16p11.2 locus have mostly been conducted in population of pure or predominant European ancestry. It is not known whether this is also prevalent among the ASD affected individuals in population of other ancestries such as Bangladeshi population. The aim of this research work is to detect CNV of SEZ6L2 gene at 16p11.2 locus and to describe the associated clinical characteristics in Bangladeshi cohort with clinically diagnosed ASD.

Methods: The known SEZ6L2 gene was interrogated for copy number variation (CNV) in twenty five autistic patients with SYBR Green I assay using the real time qPCR. Probands were interrogated using relative standard curve (efficiency correction) method. Epilepsy with speech disorder and postnatal infection might be more common among autistic patients with CNV at this SEZ6L2 gene.

Results: The two cases with characteristics CNV was detected who had clinically manifestation of convulsion at different ages, partial developmental delay in multiple domains including delay in walking, speech delay and mental age not corresponding with the chronological age. This work describes the frequency of CNV is 8.3 %. This rate is skewed due to small sample size and do not reflect the true frequency of 16p11.2 duplication impacting SEZ6L2 gene.

Conclusion: Epilepsy with speech disorder and postnatal infection might be more common among autistic patients with CNV at this SEZ6L2 gene.

Bangladesh J Medicine Jan 2019; 30(1) : 24-29

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Published
2019-01-22
How to Cite
Uddin, K., Amin, M. R., Sultana, N., Aleem, M. A., Sarker, S., Banu, L., Ali, M. S., Khanam, W., Rahman, N., Baqui, M. A., Akter, H., Dity, N., & Hossain, M. A. (2019). Detection of Clinically Relevant Copy Number Variation of SEZ6L2 Gene in a Bangladeshi Autism Spectrum Disorder Cohort. Bangladesh Journal of Medicine, 30(1), 24-29. https://doi.org/10.3329/bjmed.v30i1.39919
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Original Articles