Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family

@article{Liu2017NovelCH,
  title={Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family},
  author={Y. Liu and Yongjie Lu and S. Liu and Shunyao Liao},
  journal={Genetics and Molecular Biology},
  year={2017},
  volume={40},
  pages={430 - 435}
}
  • Y. Liu, Yongjie Lu, +1 author Shunyao Liao
  • Published 2017
  • Biology, Medicine
  • Genetics and Molecular Biology
  • Abstract Anophthalmia is a rare eye development anomaly resulting in absent ocular globes or tissue in the orbit since birth. Here, we investigated a newborn with bilateral anophthalmia in a Chinese family. Exome sequencing revealed that compound heterozygous mutations c.287G > A (p.(Arg96His)) and c.709G > A (p.(Gly237Arg)) of the ALDH1A3 gene were present in the affected newborn. Both mutations were absent in all of the searched databases, including 10,000 in-house Chinese exome sequences… CONTINUE READING
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