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Provedor de dados:  Genet. Mol. Biol.
País:  Brazil
Título:  Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family
Autores:  Liu,Yunqiang
Lu,Yongjie
Liu,Shasha
Liao,Shunyao
Data:  2017-06-01
Ano:  2017
Palavras-chave:  Anophthalmia
Exome sequence
ALDH1A3
Compound heterozygous mutations
Resumo:  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, and these mutations were confirmed as having been transmitted from the parents. Comparative amino acid sequence analysis across distantly related species revealed that the residues at positions 96 and 234 were evolutionarily highly conserved. In silico analysis predicted these changes to be damaging, and in vitro expression analysis revealed that the mutated alleles were associated with decreased protein production and impaired tetrameric protein formation. This study firstly reported that compound heterozygous mutations of the ALDH1A3 gene can result in anophthalmia in humans, thus highlighting those heterozygous mutations in ALDH1A3 should be considered for molecular screening in anophthalmia, particularly in cases from families without consanguineous relationships.
Tipo:  Info:eu-repo/semantics/article
Idioma:  Inglês
Identificador:  http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300430
Editor:  Sociedade Brasileira de Genética
Relação:  10.1590/1678-4685-gmb-2016-0120
Formato:  text/html
Fonte:  Genetics and Molecular Biology v.40 n.2 2017
Direitos:  info:eu-repo/semantics/openAccess
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