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Journals / Turkish Journal of Pediatrics / 2016 / Cilt: 58 - Sayı: 6

A Turkish BCS1L mutation causes GRACILE-like disorder

Şule YİĞİT
Eda UTİNE
Şahin TAKCI
Esra SERDAROĞLU
Heike KOTARSKY
Onur ÇİL
Vineta FELLMAN
Pages
658–661
Publication Date
2022-11-05
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Assembly defects in complex III should be investigated in the affected tissues, since fibroblasts may not exhibit the deficiency

📌 3 Key Takeaways

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Objective & Hypothesis:Serdaroğlu E, Takcı Ş, Kotarsky H, Çil O, Utine E, Yiğit Ş, Fellman V.
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Key Findings & Data:A Turkish BCS1L mutation causes GRACILE-like disorder.
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Conclusion & Impact:Assembly defects in complex III should be investigated in the affected tissues, since fibroblasts may not exhibit the deficiency
🔬Design:Research Article
📍Scope:2016 Verileri
⚙️Variables:Domain Parameters

Abstract

Serdaroğlu E, Takcı Ş, Kotarsky H, Çil O, Utine E, Yiğit Ş, Fellman V. A Turkish BCS1L mutation causes GRACILE-like disorder. Turk J Pediatr 2016; 58: 658-661.A full-term growth-restricted female newborn (1790 g), presented with lactic acidosis (12.5 mmol/L) after birth. She had renal tubulopathy, cholestasis and elevated serum ferritin concentration (2819 ng/ml). Two similarly affected sisters had died before 3 months of age. Mitochondrial disorder was suspected since the disease resembled the Finnish GRACILE syndrome, caused by a homozygous mutation (c.232A>G) in BCS1L. Thus, we sequenced the BCS1L gene, encoding the assembly factor for respiratory chain complex III. The patient had a homozygous mutation (c.296C>T; p.P99L), for which both parents were heterozygous. In four previously published patients of Turkish origin, the same homozygous mutation resulted in complex III deficiency, tubulopathy, encephalopathy, and liver failure. The p.P99L mutation seems to be specific to Turkish population and leads to GRACILE-like or Leighlike condition. Assembly defects in complex III should be investigated in the affected tissues, since fibroblasts may not exhibit the deficiency

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Cite This Article

YİĞİT, Ş., UTİNE, E., TAKCI, Ş., SERDAROĞLU, E., KOTARSKY, H., ÇİL, O., FELLMAN, V. (2022). A Turkish BCS1L mutation causes GRACILE-like disorder. Turkish Journal of Pediatrics, Cilt: 58 - Sayı: 6, 658–661. https://ajindex.com/articles/613190

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References (5)

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