Chen-Bo Jia

A novel ATP7A splice‑site variant with suspected maternal gonadal mosaicism in Menkes disease: functional validation and prenatal diagnosis

Menkes disease (MIM#309400) is a rare, fatal X-linked neurodegenerative disorder caused by ATP7A mutations. Delayed diagnosis due to clinical heterogeneity and limited data on mutational spectrum and reproductive risk remain challenges, with gonadal mosaicism being an often underestimated cause of disease recurrence....