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01-10-2017 | Short Communication

A patient with mitochondrial disorder due to a novel mutation in MRPS22

Authors: Mustafa Kılıç, Kader-Karli Oğuz, Esra Kılıç, Deniz Yüksel, Hüseyin Demirci, Mahmut Şamil Sağıroğlu, Didem Yücel-Yılmaz, Rıza Köksal Özgül

Published in: Metabolic Brain Disease | Issue 5/2017

Abstract

MRPS22 gene defect is a very rare newly discovered mitochondrial disorder. We report a 4-month-old severely affected male infant with MRPS22 mutation. Whole exome sequencing revealed a novel homozygous splicing mutation c.339 + 5 G > A in MRPS22 gene. He has mild dysmorphism, hypotonia, developmental delay but not hypertrophic cardiomyopathy and tubulopathy which differ from other majority of reported patients. Therefore, hypertrophic cardiomyopathy and tubulopathy may not be considered as constant features of MRPS22. With this case report, we also present first symmetrical bilateral brainstem and medial thalamic lesions, and cerebellar and cerebral atrophy on a brain MR imaging follow-up of ten months.

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Saada A, Shaag A, Arnon S et al (2007) Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. J Med Genet 44:784–786CrossRefPubMedPubMedCentral

Smits P, Saada A, Wortmann SB et al (2011) Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy. Eur J Hum Genet 19:394–399CrossRefPubMed

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Title: A patient with mitochondrial disorder due to a novel mutation in MRPS22
Authors: Mustafa Kılıç
Kader-Karli Oğuz
Esra Kılıç
Deniz Yüksel
Hüseyin Demirci
Mahmut Şamil Sağıroğlu
Didem Yücel-Yılmaz
Rıza Köksal Özgül
Publication date: 01-10-2017
Publisher: Springer US
Published in: Metabolic Brain Disease / Issue 5/2017
Print ISSN: 0885-7490
Electronic ISSN: 1573-7365
DOI: https://doi.org/10.1007/s11011-017-0074-5

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Springer Medicine

A patient with mitochondrial disorder due to a novel mutation in MRPS22

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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