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. 2016:27:27-32.
doi: 10.1007/8904_2015_464. Epub 2015 Sep 27.

SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)

Roeltje R Maas  1 , Adela Della Marina  2 , Arjan P M de Brouwer  3   4 , Ron A Wevers  5 , Richard J Rodenburg  1 , Saskia B Wortmann  6
Affiliations

SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)

Roeltje R Maas et al. JIMD Rep. 2016.

Abstract

SUCLA2 encodes for a subunit of succinyl-coenzyme A synthase, the enzyme that reversibly synthesises succinyl-coenzyme A and ATP from succinate, coenzyme A and ADP in the Krebs cycle. Disruption of SUCLA2 function can lead to mitochondrial DNA depletion. Patients with a SUCLA2 mutation present with a rare but distinctive deafness-dystonia syndrome. Additionally, they exhibit elevated levels of the characteristic biochemical markers: methylmalonate, C4-dicarboxylic carnitine and lactate are increased in both plasma and urine. Thus far, eight different disease-causing SUCLA2 mutations, of which six missense mutations and two splice site mutations, have been described in the literature. Here, we present the first patient with an intragenic deletion in SUCLA2 and review the patients described in literature.

Keywords: 3-Methylglutaconic aciduria; Hearing impairment; Mitochondrial DNA depletion; Movement disorder; SUCLG1.

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Figures

Fig. 1
Fig. 1
The positions of all mutations identified in human
See this image and copyright information in PMC

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References

    1. Alazami AM, Schneider SA, Bonneau D, et al. C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients. Clin Genet. 2010;78(6):585–590. doi: 10.1111/j.1399-0004.2010.01441.x. - DOI - PubMed
    1. Alexoudi A, Schneider SA. Mutations in the phospholipid remodeling gene SERAC1 cause MEGDEL syndrome. Mov Disord. 2012;27(14):1738. doi: 10.1002/mds.25228. - DOI - PubMed
    1. Carrozzo R, Dionisi-Vici C, Steuerwald U, et al. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain. 2007;130(Pt 3):862–874. doi: 10.1093/brain/awl389. - DOI - PubMed
    1. Elpeleg O, Miller C, Hershkovitz E, et al. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet. 2005;76(6):1081–1086. doi: 10.1086/430843. - DOI - PMC - PubMed
    1. Jaberi E, Chitsazian F, Ali Shahidi G, et al. The novel mutation p.Asp251Asn in the beta-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine. J Hum Genet. 2013;58(8):526–530. doi: 10.1038/jhg.2013.45. - DOI - PubMed