Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene
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- 作者：Marwa Ammara ; Mouna Tabebia ; Lamia Sfaihic ; Olfa Alila-Fersib ; Marwa Maaleja ; Rahma Felhia ; Imen Chabchoubc ; Leila Keskesa ; Mongia Hachichac ; Faiza Fakhfakhb ; Emna Mkaouar-Rebaib ; emna.mkaouar@gmail.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：Mitochondrial mutations ; mtDNA ; MT-ND1 ; m.3861A > ; C ; Hearing loss
- 刊名：Biochemical and Biophysical Research Communications
- 出版年：2016
- 出版时间：10 June 2016
- 年：2016
- 卷：474
- 期：4
- 页码：702-708
- 全文大小：1816 K
文摘
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We reported patients with profound sensorineural hearing loss and neurodevelopmental delay.
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The heteroplasmic m.3861A > C mutation was detected in the MT-ND1 gene in P1.
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The m.3861A > C mutation seems to lead to a loss of stability of the ND1 protein.
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The m.12350C > A and m.14351T > C variations were found in P2.