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

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.

journal_name

Metab Brain Dis

journal_title

Metabolic brain disease

authors

Kılıç M,Oğuz KK,Kılıç E,Yüksel D,Demirci H,Sağıroğlu MŞ,Yücel-Yılmaz D,Özgül RK

doi

10.1007/s11011-017-0074-5

subject

Has Abstract

pub_date

2017-10-01 00:00:00

pages

1389-1393

issue

5

eissn

0885-7490

issn

1573-7365

pii

10.1007/s11011-017-0074-5

journal_volume

32

pub_type

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