Targeted exome sequencing identifies novel compound heterozygous mutations in P3H1 in a fetus with osteogenesis imperfecta type VIII

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• 作者：Yanru Huang^a ; Libin Mei^a ; Weigang Lv^b ; Haoxian Li^b ; Rui Zhang^a ; Qian Pan^a ; ^b ; Hu Tan^a ; Jing Guo^a ; Xiaomei Luo^a ; Chen Chen^a ; Desheng Liang^a ; ^b ; ^{liangdesheng@sklmg.edu.cn} ; Lingqian Wu^a ; ^b ; ^{wulingqian@sklmg.edu.cn}
• 关键词：Osteogenesis imperfecta type VIII ; P3H1 ; Compound heterozygous mutations ; Targeted exome sequencing
• 刊名：Clinica Chimica Acta
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：464
• 期：Complete
• 页码：170-175
• 全文大小：1701 K
• 卷排序：464

文摘

This is the first report of a mutation in the extreme amino-terminal of LEPRE1. This is the first report of a mutation in the C-terminal of LEPRE1 that leads to the direct loss of the KDEL ER-retrieval sequence. This mutation led to loss of the P3H1 protein and mildly decline of CRTAP protein.