Article

A homozygous missense mutation in <i>ERAL1,</i> encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

2017-03-10

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 mutation...

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Literature Corpus work: a5bf5781-7443-5992-8eb1-ee7e413d705d
DOI: 10.1101/115790

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