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M. Wayhelova

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Open access Aug 2026

A novel breakpoint deletion within a CAG repeat causes complete androgen insensitivity syndrome: Report of its segregation in a large Czech family.

BACKGROUND Complete androgen insensitivity syndrome (CAIS) is one of the most prevalent conditions of disorders/differences of sex development (DSD), with an X-linked recessive inheritance. A hemizygous pathogenic variant in the AR gene causes the condition. CASE REPORT We present a five-generation Czech family with...

Júlia Martinková, Andrea Gřegořová, M. Wayhelova et al. · 0 citations
Open access Aug 2026

Novel truncating SF1 gene variant in a family with mild neurodevelopmental disorder: expanding the phenotype of SF1-related spliceosomopathy spectrum

The SF1 gene encodes the splicing factor 1, a part of the splicing machinery. Recently, loss-of-function (LoF) variants in the SF1 gene have been suggested as a molecular cause of a neurodevelopmental spliceosomopathy. We report a unique familial case of a novel truncating variant in a single Cze...

M. Wayhelova, J. Šoukalová, Petra Lišková et al. · 0 citations

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