Whole Genome Sequencing Instead of Whole Exome Sequencing is Required to Identify the Genetic Causes of Polycystic Ovary Syndrome in Pakistani Families. | [Pakistan Journal of Medical Sciences • 2018]

Author(s):

1. Muhammad Jaseem Khan: Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan

2. Rubina Nazli: Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan

3. Jawad Ahmed: Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan

4. Sulman Basit: Center for Genetics and Inherited Diseases, Taibah University, Almadina Almunawara, Saudi Arabia

Abstract:

Background & Objective: Polycystic Ovary Syndrome (PCOS) is the major cause of infertility in females. PCOS is a complex and multifactorial disease, genetic and environmental factors being important predisposing factors. Diagnosis of PCOS is difficult due to the complexity of this disease; hence, better diagnostic tests are required to improve its management. Aim of the study was to elucidate the genetic causes of PCOS in three Pakistani families. Methods: Three Pakistani families segregating PCOS in an apparently autosomal recessive mode were recruited. Whole genome Single Nucleotide Polymorphism (SNP) genotyping and Whole Exome Sequencing (WES) were carried out to identify the candidate genes. Results: SNP genotypes data analyses identified multiple regions of homozygosity on different chromosomes. WES was performed in affected members of the family. Screening for pathogenic mutations in homozygous regions failed to detect any mutation/variant of interest. Conclusion: PCOS is multifactorial and complex disease so variants in the coding as well as in non-coding regions may be the genetic causes of the disease. To elucidate the genetic cause(s) of the PCOS, Whole Genome Sequencing (WGS) is recommended to cover both coding and non-coding regions of the genome.

Page(s): 540-545

DOI: DOI not available

Published: Journal: Pakistan Journal of Medical Sciences, Volume: 34, Issue: 3, Year: 2018

Keywords:

Keywords are not available for this article.

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