# Determination of carriers of deafness-infertility syndrome in Peru

## TL;DR

This study estimates the number of people in Peru who carry genes linked to deafness-infertility syndrome and finds higher carrier rates in poorer regions.

## Contribution

The study provides the first estimate of DIS carrier frequency in Peru and links it to regional poverty levels.

## Key findings

- Approximately 367,364 people in Peru are estimated to be carriers of DIS-related genes.
- Around 57,442 people in Peru are estimated to have both deafness and infertility due to DIS.
- Higher carrier frequencies were observed in regions with higher poverty rates.

## Abstract

The prevalence of deafness-infertility syndrome (DIS) is approximately 1%. Genetic heterogeneity is one cause of homozygous copy number variants (CNVs) involving the CATSPER2 and STRC genes, which are associated with DIS and male infertility. Because the prevalence of DIS in Peru is unknown, we aimed to determine the frequency of carriers of DIS-related genes. In this descriptive crossover study, we evaluated the clinical histories and chromosomal microarray analysis results of patients at the Instituto Nacional de Salud del Niño Breña from 2015 to 2022. All patients with CNVs involving the CATSPER2 and STRC genes were included, and the frequencies of carriers and affected patients were determined using Hardy‒Weinberg equilibrium. Relative frequency differences were calculated using the chi-square test with goodness-of-fit for natural regions and poverty groups in Peru. Of 2,142 patients screened, 35 met the inclusion criteria; according to the results, approximately 367,364 people were estimated to be DIS carriers in Peru, and approximately 57,442 people had deafness and infertility. The proportion of carriers in Peru was similar to that observed in other population studies. Additionally, people in regions with higher poverty rates exhibited a greater carrier frequency, suggesting that a patient’s region of origin could be a criterion for DIS screening.