Introduction

Polycystic ovary syndrome (PCOS) is a multifactorial, endocrinological, and reproductive condition among women of reproductive age worldwide, with a global prevalence between 6–13%. Multiple studies from different ethnicities have associated more than a dozen candidate genes with PCOS, including the anti-Mullerian hormone gene (AMH). To date, there have been no comprehensive reports on the molecular studies of PCOS patients from Assam, India.

Material and methods

The current study is a prospective, case-control, tri-centric, hospital-based study. We recruited 100 PCOS patients, diagnosed based on Rotterdam classification, and 50 controls. Relevant clinical data was recorded and tabulated. A candidate gene screening approach was employed to identify novel and reported sequence variations in the AMH gene.

Results

A novel pathogenic sequence variation, c.698T>A (homozygous), p.Leu233Gln substitution, was observed in a 31-year-old married female patient with no positive family history, with oligomenorrhea and multiple cysts in both ovaries. The observed sequence change variant was absent in 50 controls and was conserved across species. In silico tools such as SIFT, Polyphen2, Align GVGD, MutationTaster and I-Mutant2.0 had predicted the L233Q mutation to alter the structure and function of AMH protein.

Conclusions

This is the first study to report L233Q pathogenic missense mutation in the AMH gene in PCOS patient from India. Our finding adds to the spectrum of reported mutations in the AMH gene and provides further evidence on the importance of AMH in the aetiopathogenesis of PCOS and also might aid in developing novel diagnostic markers.