Abstract:
:Recently, bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole-exome sequencing. Our findings support the association between this disorder and neonatal cholestasis with distinct liver pathology. Furthermore, we provide functional data on two novel missense substitutions and expand the phenotype to include mild developmental delay, skin hyper-elasticity, and hypervitaminosis D.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Orenstein N,Weiss K,Oprescu SN,Shapira R,Kidron D,Vanagaite-Basel L,Antonellis A,Muenke Mdoi
10.1111/cge.12930subject
Has Abstractpub_date
2017-06-01 00:00:00pages
913-917issue
6eissn
0009-9163issn
1399-0004journal_volume
91pub_type
杂志文章abstract::Congenital heart disease (CHD) is one of most prevalent birth defects in the world. However, the underlying molecular mechanism(s) have not been fully understood. Here we report that increased CHD susceptibility is associated with genetic polymorphisms for de novo nucleotide biosynthesis in northern Chinese population...
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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更新日期:2020-10-01 00:00:00
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journal_title:Clinical genetics
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doi:10.1111/j.1399-0004.2009.01358.x
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pub_type: 杂志文章,评审
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更新日期:1998-10-01 00:00:00