Article
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
Human molecular genetics - 1 Jul 2017
Chatzispyrou Iliana A, Alders Marielle, Guerrero-Castillo Sergio, Zapata Perez Ruben, Haagmans Martin A, Mouchiroud Laurent, Koster Janet, Ofman Rob, Baas Frank, Waterham Hans R, Spelbrink Johannes N, Auwerx Johan, Mannens Marcel M, Houtkooper Riekelt H, Plomp Astrid S
Abstract excerpt
Perrault syndrome (PS) is a rare recessive disorder characterized by ovarian dysgenesis and sensorineural deafness. It is clinically and genetically heterogeneous, and previously mutations have been described in different genes, mostly related to mitochondrial proteostasis. We diagnosed three unrelated females with PS and set out to identify the underlying genetic cause using exome sequencing. We excluded...
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