Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).

doi:10.1007/s00439-020-02176-w

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Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).

Human genetics - 1 Oct 2020

Tucker Elena J, Rius Rocio, Jaillard Sylvie, Bell Katrina, Lamont Phillipa J, Travessa André, Dupont Juliette, Sampaio Lurdes, Dulon Jérôme, Vuillaumier-Barrot Sandrine, Whalen Sandra, Isapof Arnaud, Stojkovic Tanya, Quijano-Roy Susana, Robevska Gorjana, van den Bergen Jocelyn, Hanna Chloe, Simpson Andrea, Ayers Katie, Thorburn David R, Christodoulou John, Touraine Philippe, Sinclair Andrew H

Abstract excerpt

Perrault syndrome is a rare heterogeneous condition characterised by sensorineural hearing loss and premature ovarian insufficiency. Additional neuromuscular pathology is observed in some patients. There are six genes in which variants are known to cause Perrault syndrome; however, these explain only a minority of cases. We investigated the genetic cause of Perrault syndrome in seven affected individuals from...

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PMID: 32399598
DOI: 10.1007/s00439-020-02176-w

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