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Article

Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.

Clinical genetics - 1 Feb 2017

Faridi R, Rehman A U, Morell R J, Friedman P L, Demain L, Zahra S, Khan A A, Tohlob D, Assir M Z, Beaman G, Khan S N, Newman W G, Riazuddin S, Friedman T B

Abstract excerpt

Perrault syndrome (PS) is a genetically heterogeneous disorder characterized by primary ovarian insufficiency (POI) in females and sensorineural hearing loss in males and females. In many PS subjects, causative variants have not been found in the five reported PS genes. The objective of this study was to identify the genetic cause of PS in an extended consanguineous family with six deaf individuals. Whole exome...

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Source

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Identifiers

PMID: 27629923
DOI: 10.1111/cge.12867
PMCID: PMC5272805

Genes

SGO2
CLDN14

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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