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

  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},
  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
    4 Citations

    Figures and Topics from this paper.

    Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature
    • 5
    • Highly Influenced
    Genetic architecture of retinoic-acid signaling-associated ocular developmental defects
    • 7


    A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia
    • 23
    ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
    • 75
    • Highly Influential
    A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred
    • 18
    • PDF
    Novel SOX2 mutations and genotype–phenotype correlation in anophthalmia and microphthalmia
    • 86
    Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia
    • 16
    Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
    • 64
    • PDF
    ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
    • 56
    • PDF
    Mutations in ALDH1A3 cause microphthalmia
    • 21
    Mutations in ALDH1A3 Represent a Frequent Cause of Microphthalmia/Anophthalmia in Consanguineous Families
    • 17
    Incomplete penetrance of biallelic ALDH1A3 mutations.
    • 10