Yayınlanmış 1 Ocak 2017
| Sürüm v1
Dergi makalesi
Açık
A patient with mitochondrial disorder due to a novel mutation in MRPS22
Oluşturanlar
- 1. Sami Ulus Children Hosp, Metab Unit, Babur Cad 44, TR-06080 Ankara, Turkey
- 2. Hacettepe Univ, Deparment Radiol, Ankara, Turkey
- 3. Pediat Hematol Oncol Training & Res Hosp, Pediat Genet Unit, Ankara, Turkey
- 4. Sami Ulus Children Hosp, Pediat Neurol Unit, Ankara, Turkey
- 5. IGBAM, TUBITAK, Gebze, Kocaeli, Turkey
- 6. Hacettepe Univ, Inst Child Hlth, Metab Unit, Ankara, Turkey
Açıklama
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.
Dosyalar
bib-0d074d89-8d15-4eea-a373-065f64a64f21.txt
Dosyalar
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