An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.
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DOI：
10.3390/genes8120381
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发表时间：
2017-12-11
期刊：
影响因子：
3.5
通讯作者：
Tranebjærg L
中科院分区：
文献类型：
--
作者：
Tracewska-Siemiątkowska A;Haer-Wigman L;Bosch DGM;Nickerson D;Bamshad MJ;University of Washington Center for Mendelian Genomics;van de Vorst M;Rendtorff ND;Möller C;Kjellström U;Andréasson S;Cremers FPM;Tranebjærg L
对一名受父母影响的瑞典先证者三人组进行全外显子序列分析，其表型特征为进行性视网膜变性伴先天性眼球震颤、严重先天性听力障碍、原发性闭经、胼胝体发育不全和肝病。806T> C，p.酪氨酰-tRNA合成酶基因（YARS）中的F269 S是唯一确定的符合常染色体隐性遗传的候选变体。YARS突变以前与常染色体显性Charcot-Marie-Tooth综合征和最近报道的常染色体隐性多器官疾病有关。在此，我们提出YARS的突变是另一种临床表型的基础，将该疾病的第二种变体（包括色素性视网膜炎和耳聋）添加到YARS相关疾病的谱中。
Whole exome sequence analysis was performed in a Swedish mother–father-affected proband trio with a phenotype characterized by progressive retinal degeneration with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease. A homozygous variant c.806T > C, p.(F269S) in the tyrosyl-tRNA synthetase gene (YARS) was the only identified candidate variant consistent with autosomal recessive inheritance. Mutations in YARS have previously been associated with both autosomal dominant Charcot-Marie-Tooth syndrome and a recently reported autosomal recessive multiorgan disease. Herein, we propose that mutations in YARS underlie another clinical phenotype adding a second variant of the disease, including retinitis pigmentosa and deafness, to the spectrum of YARS-associated disorders.
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