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Review

Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview

Shamima Rahman  1 , David R Thorburn  2   3   4 , Megan Ball  3   4   5
Margaret P Adam, Sarah Bick, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview

Shamima Rahman et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Briefly describe the clinical characteristics of nuclear gene-encoded Leigh syndrome spectrum (LSS);

  2. 2

    Review the genetic causes of nuclear gene-encoded LSS;

  3. 3

    Review the differential diagnosis of nuclear gene-encoded LSS with a focus on genetic conditions;

  4. 4

    Provide an evaluation strategy to identify the genetic cause of nuclear gene-encoded LSS in a proband (when possible);

  5. 5

    Review management of nuclear gene-encoded LSS with a focus on disorders with targeted therapies;

  6. 6

    Inform genetic counseling of family members of an individual with nuclear gene-encoded LSS.

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References

    1. Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet. 2015;47:926-32. - PMC - PubMed
    1. Ahola S, Isohanni P, Euro L, Brilhante V, Palotie A, Pihko H, Lönnqvist T, Lehtonen T, Laine J, Tyynismaa H, Suomalainen A. Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy. Neurology. 2014;83:743-51. - PMC - PubMed
    1. Alahmad A, Nasca A, Heidler J, Thompson K, Olahova M, Legati A, Lamantea E, Meisterknecht J, Spagnolo M, He L, Alameer S, Hakami F, Almehdar A, Ardissone A, Alston CL, McFarland R, Wittig I, Ghezzi D, Taylor RW. Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I. EMBO Mol Med. 2020;12:e12619. - PMC - PubMed
    1. Alsharhan H, Muraresku C, Ganetzky RD. COXPD9 in an individual from Puerto Rico and literature review. Am J Med Genet A. 2021;185:2519-25. - PubMed
    1. Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW. Pathogenic bi-allelic mutations in NDUFAF8 cause Leigh syndrome with an isolated complex I deficiency. Am J Hum Genet. 2020;106:92-101. - PMC - PubMed

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