Background/Objectives: Alport syndrome (AS) predominantly presents with X-linked inheritance
worldwide. However, the epidemiological landscape remains poorly characterized, particularly
among ethnic minority groups like the Roma minority in Slovakia. Our study aimed to
investigate the inheritance patterns of AS in this region and determine whether a
distinct pattern predominates. Methods: Selective genetic screening for pathogenic
variants previously occurring in Slovakia was performed. Samples from patients with
persistent (familial) hematuria ± hearing loss who had not yet undergone biopsy or
genetic testing were analyzed by high-resolution melting analysis. The prevalence
of AS per million (pm) population was calculated by adding information on patients
with previously confirmed AS. Results: Twenty-five new cases of ARAS, one digenic
form, and two cases of XLAS were identified by screening. In total, we collected information
on 46 patients with genetically or bioptically confirmed AS in the region of eastern
Slovakia, corresponding to a prevalence of 29 pm population. The c.1598G>A (p.Gly533Asp)
pathogenic variant of the collagen type IV alpha 4 chain, which follows an autosomal
recessive inheritance pattern, was the most prevalent variant that was exclusively
confirmed in Roma patients (n = 35), suggesting a founder effect. Within the Roma
community, the prevalence of ARAS (the most prevalent inheritance pattern) corresponds
to 133 pm of the Roma population, based on midpoint population estimates. Conclusions:
Our findings demonstrate a unique genetic profile of AS in the Roma population, characterized
by a high prevalence of ARAS, with implications for genetic counseling and screening
strategies.
