Erratum

Area of Science:

• Genetics
• Endocrinology
• Molecular Biology

Background:

• Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder affecting reproductive development.
• Accurate genetic variant nomenclature is crucial for understanding disease mechanisms and genotype-phenotype correlations.

Purpose of the Study:

• To correct an identified error in protein variant nomenclature for a genetic variant associated with CHH.
• To refine genotype-phenotype correlations in patients with CHH.
• To highlight the importance of accurate nomenclature in genetic studies.

Main Methods:

• Expanded targeted-exome sequencing was employed to identify genetic variants in CHH patients.
• Functional validation was performed to assess the impact of identified variants.
• Nomenclature correction followed Human Genome Variation Society (HGVS) guidelines.

Main Results:

• A specific protein variant nomenclature error was identified and corrected from p.*139Trpext*41 to p.*139Trpext*7.
• This correction refines the understanding of the C-terminal protein extension caused by a stop codon alteration.
• The study identified novel and known pathogenic/likely pathogenic variants and variants of uncertain significance (VUS) in 35 CHH patients.

Conclusions:

• Accurate protein nomenclature is essential for precise genetic and clinical interpretation in CHH research.
• Expanded exome sequencing and rigorous nomenclature adherence enhance molecular diagnostics and genotype-phenotype correlations in CHH.
• The findings contribute to a more accurate understanding of the genetic basis of CHH.