AI Article Synopsis
- - The study investigates the genetic causes of congenital hypogonadotropic hypogonadism (CHH), a rare disorder linked to deficiencies in gonadotropin-releasing hormone (GnRH), in six families from Pakistan.
- - Researchers used genome sequencing to identify pathogenic single nucleotide variants and copy number variants, discovering novel mutations in known CHH-related genes such as GNRHR and KISS1R in four families, while two others had significant deletions in the ANOS1 gene.
- - The findings highlight the importance of using a comprehensive analysis of genetic variants to enhance diagnostic accuracy for CHH patients.
Article 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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11325732 | PMC |
| http://dx.doi.org/10.1186/s12864-024-10598-3 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!