Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism
Document Type
Article
Department
Biological and Biomedical Sciences; Obstetrics and Gynaecology
Abstract
Background/objectives: This study aims to elucidate the genetic causes of congenital hypogonadotropic hypogonadism (CHH), a rare genetic disorder resulting in GnRH deficiency, in six families from Pakistan.
Methods: Eighteen DNA samples from six families underwent genome sequencing followed by standard evaluation for pathogenic single nucleotide variants (SNVs) and small indels. All families were subsequently analyzed for pathogenic copy number variants (CNVs) using CoverageMaster.
Results: Novel pathogenic homozygous SNVs in known CHH genes were identified in four families: two families with variants in GNRHR, and two others harboring KISS1R variants. Subsequent investigation of CNVs in the remaining two families identified novel unique large deletions in ANOS1.
Conclusion: A combined, systematic analysis of single nucleotide and CNVs helps to improve the diagnostic yield for variants in patients with CHH.
Publication (Name of Journal)
BMC Genomics
DOI
10.1186/s12864-024-10598-3
Recommended Citation
Zouaghi, Y.,
Choudhary, A. M.,
Irshad, S.,
Rehman, K. U.,
Fatima, A.,
Shahid, M.,
Najmi, N.,
Ansar, M.,
Santoni, F.,
Pitteloud, N.
(2024). Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism. BMC Genomics, 25(1).
Available at:
https://ecommons.aku.edu/pakistan_fhs_mc_bbs/1066
Comments
Pagination is not provided by author/publisher.