Phenotypic spectrum of SLC25A4 mutations

Biomedical Reports
Josef Finsterer, Sinda Zarrouk-Mahjoub

Abstract

There is no comprehensive overview concerning the phenotypic variability in patients carrying SLC25A4 mutations available. Therefore, the aim of the present review was to summarise and discuss recent findings concerning the clinical presentation and phenotypic heterogeneity of SLC25A4 mutations. The study was conducted by systematically reviewing the literature using the search terms 'mitochondrial', "myopathy', 'nuclear DNA', 'mitochondrial DNA', in combination with 'SLC25A4' or 'AAC1'. The results indicated that the phenotypic heterogeneity in patients carrying a SLC25A4 mutation is broader than so far anticipated. Patients carrying a SLC25A4 mutation not only manifest as encephalo-myo-cardiomyopathy but also with scoliosis, cataract, depression, headache, hydrocephalus or arterial hypertension. SLC25A4 mutations may result in mtDNA depletion or multiple mitochondrial (mt)DNA deletions. SLC25A4-associated mtDNA depletion presents with the more severe phenotype and the worse outcome than patients with multiple mtDNA deletions. Depletion syndrome due to SLC25A4 mutations is associated with congenital respiratory insufficiency requiring mechanical ventilation with poor prognosis in the majority of the cases. Mutations in the SLC...Continue Reading

References

Mar 16, 2011·Journal of the Neurological Sciences·Josef Finsterer
Apr 27, 2011·Journal of Clinical Neurology·Kyung-Pil ParkDae-Seong Kim
Dec 22, 2011·Journal of Medical Genetics·Andoni Echaniz-LagunaBénédicte Mousson de Camaret
Aug 28, 2012·Brain & Development·Josef Finsterer, Sinda Zarrouk Mahjoub
Nov 24, 2012·Molecular Membrane Biology·John MifsudFrancois Dehez
Feb 13, 2013·Proceedings of the National Academy of Sciences of the United States of America·Kevin A StraussDouglas C Wallace
Mar 4, 2015·JIMD Reports·I M L W Körver-KeulartsB J C van den Bosch
Mar 10, 2016·Journal of Pediatric Endocrinology & Metabolism : JPEM·Mohammad MiryounesiSoudeh Ghafouri-Fard
Oct 25, 2016·Nature Reviews. Disease Primers·Gráinne S GormanDouglass M Turnbull
Jan 13, 2017·Nature Reviews. Cardiology·Josef FinstererJeffrey A Towbin

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