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Review

Perrault Syndrome Overview

Tianyi Li  1 , Rabia Faridi  2 , William G Newman  3 , Thomas B Friedman  2
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
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Review

Perrault Syndrome Overview

Tianyi Li et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Briefly describe the clinical characteristics of Perrault syndrome;

  2. 2

    Review the genetic causes of Perrault syndrome;

  3. 3

    Review the differential diagnosis of Perrault syndrome with a focus on genetic conditions;

  4. 4

    Provide an evaluation strategy to identify the genetic cause of Perrault syndrome in a proband (when possible);

  5. 5

    Review management of Perrault syndrome;

  6. 6

    Inform genetic counseling of family members of an individual with Perrault syndrome.

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References

    1. Adam AP, O'Sullivan L, Peterson A, Yabumoto M, Merguerian P, Adam MP. LARS2-related Perrault syndrome in siblings with 46,XY differences of sex development. Am J Med Genet A. 2025;197:e64064. - PubMed
    1. Bakhshalizadeh S, Hock DH, Siddall NA, Kline BL, Sreenivasan R, Bell KM, Casagranda F, Kamalanathan S, Sahoo J, Narayanan N, Naik D, Suryadevara V, Compton AG, Amarasekera SSC, Kapoor R, Jaillard S, Simpson A, Robevska G, van den Bergen J, Pachernegg S, Ayers KL, Thorburn DR, Stroud DA, Hime GR, Sinclair AH, Tucker EJ. Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency. Hum Genet. 2023;142:879-907. - PMC - PubMed
    1. Bayanova M, Abilova A, Nauryzbayeva A, Turarbekova Z. Delayed diagnosis of Perrault syndrome: a rare genetic disorder. Case Rep Med. 2024;2024:5319443. - PMC - PubMed
    1. Boros E, Elilie Mawa Ongoth F, Heinrichs C, Mansbach AL, Seneca S, Aeby A, Ismaili K, Brachet C. Primary ovarian insufficiency in RMND1 mitochondrial disease. Mitochondrion. 2022;66:51-3. - PubMed
    1. Chang X, Li G, Fu H, Guan M, Guo T. A homozygous mutation of TWNK identified in premature ovarian insufficiency warns of late-onset Perrault syndrome. Eur J Obstet Gynecol Reprod Biol. 2024;299:118-23. - PubMed

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