Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay

被引:23
|
作者
Orenstein, N. [1 ,2 ]
Weiss, K. [3 ]
Oprescu, S. N. [4 ]
Shapira, R. [2 ]
Kidron, D. [2 ,5 ]
Vanagaite-Basel, L. [1 ,2 ,6 ,7 ]
Antonellis, A. [4 ]
Muenke, M. [3 ]
机构
[1] Schneider Children Med Ctr Israel, Dept Pediat Genet, Petah Tiqwa, Israel
[2] Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel
[3] NHGRI, Med Genet Branch, NIH, 35 Convent Dr,MSC 3717,Bldg 35,Room 1B-203, Bethesda, MD 20892 USA
[4] Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI USA
[5] Meir Hosp, Dept Pathol, Kefar Sava, Israel
[6] Rabin Med Ctr, Raphael Recanati Genet Inst, Petah Tiqwa, Israel
[7] Rabin Med Ctr, Felsenstein Med Res Ctr, Petah Tiqwa, Israel
关键词
cholestasis; connective tissue; development; growth; IARS; vitamin D; TRANSFER-RNA SYNTHETASE; DISEASE; RECOGNITION; NEUROPATHY; MUPIROCIN; INSIGHTS;
D O I
10.1111/cge.12930
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:913 / 917
页数:5
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