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A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility

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Meindl, Katrin ; Issler, Naomi ; Afonso, Sara Cerqueira ; Cebrian-Serrano, Alberto ; Müller-Decker, Karin ; Sterner, Christina ; Othmen, Helga ; Tegtmeier, Ines ; Witzgall, Ralph ; Klootwijk, Enriko D. ; Davies, Benjamin ; Kleta, Robert ; Warth, Richard
[img]License: Creative Commons Attribution 4.0
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Date of publication of this fulltext: 26 Oct 2023 14:30


Normal function of the C-terminal Eps15 homology domain-containing protein 1 (EHD1) has previously been associated with endocytic vesicle trafficking, shaping of intracellular membranes, and ciliogenesis. We recently identified an autosomal recessive missense mutation c.1192C>T (p.R398W) of EHD1 in patients who had low molecular weight proteinuria (0.7–2.1 g/d) and high-frequency hearing loss. It ...


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