Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging
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- 作者：Arumugam Paramasivama ; Angamuthu Kannan Meenab ; Lalitha Pedaparthib ; Vuskamalla Jyothia ; Megha S. Uppinc ; Shaikh Afshan Jabeenb ; Challa Sundaramc ; Kumarasamy Thangaraja ; thangs@ccmb.res.in" class="auth_mail" title="E-mail the corresponding author
- 关键词：Ptosis ; CPEO ; mtDNA ; Multiple mtDNA deletions ; C10orf2 mutation
- 刊名：Mitochondrion
- 出版年：2016
- 出版时间：January 2016
- 年：2016
- 卷：26
- 期：Complete
- 页码：81-85
- 全文大小：725 K
文摘
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Twinkle, encoded by C10orf2 is required for mtDNA replication.
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C10orf2 sequencing revealed 3 different variants identified in 3 of the 12 patients with multiple mtDNA deletions and CPEO.
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In silico prediction showed p.G655D variant is potentially pathogenic.
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Sequencing of C10orf2 is mandatory patients with CPEO and mtDNA multiple deletions for proper prognosis and family counselling.