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. , ...Daha Fazla

METABOLIC BRAIN DISEASE, cilt.32, sa.5, ss.1389-1393, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Konu: 5
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1007/s11011-017-0074-5
  • Sayfa Sayıları: ss.1389-1393


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.