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


Kilic M., Oguz K., Kilic E. , YÜKSEL D., DEMİRCİ H., SAĞIROĞLU M. S. , ...More

METABOLIC BRAIN DISEASE, vol.32, no.5, pp.1389-1393, 2017 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 5
  • Publication Date: 2017
  • Doi Number: 10.1007/s11011-017-0074-5
  • Title of Journal : METABOLIC BRAIN DISEASE
  • Page Numbers: pp.1389-1393
  • Keywords: MRPS22, Developmental delay, Hypotonia, Mitochondrial disorder, Leigh syndrome, Mosaic down syndrome

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.