例如:"lncRNA", "apoptosis", "WRKY"

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

Metab Brain Dis. 2017 Oct;32(5):1389-1393. Epub 2017 Jul 27
Mustafa Kılıç 1 , Kader-Karli Oğuz 2 , Esra Kılıç 3 , Deniz Yüksel 4 , Hüseyin Demirci 5 , Mahmut Şamil Sağıroğlu 5 , Didem Yücel-Yılmaz 6 , Rıza Köksal Özgül 6
Mustafa Kılıç 1 , Kader-Karli Oğuz 2 , Esra Kılıç 3 , Deniz Yüksel 4 , Hüseyin Demirci 5 , Mahmut Şamil Sağıroğlu 5 , Didem Yücel-Yılmaz 6 , Rıza Köksal Özgül 6
+ et al

[No authors listed]

Author information
  • 1 Sami Ulus Children Hospital, Metabolism Unit, Babur cad. No: 44, 06080, Altındağ, Ankara, Turkey. kilickorkmaz@yahoo.com.tr.
  • 2 Deparment of Radiology, Hacettepe University, Ankara, Turkey.
  • 3 Pediatric Hematology-Oncology Training and Research Hospital, Pediatric Genetic Unit, Ankara, Turkey.
  • 4 Sami Ulus Children Hospital, Pediatric Neurology Unit, Ankara, Turkey.
  • 5 TÜBİTAK, IGBAM, Gebze, Kocaeli, Turkey.
  • 6 Institute of Child Health, Metabolism Unit, Hacettepe University, Ankara, Turkey.

摘要


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.

KEYWORDS: Developmental delay, Hypotonia, Leigh syndrome, MRPS22, Mitochondrial disorder, Mosaic down syndrome