Genetic testing for rare pediatric lung disorders: The promise and the pitfalls.
作者信息
Nogee Lawrence M
机构信息
Eudowood Division of Neonatology Department of Pediatrics Johns Hopkins University School of Medicine Baltimore Maryland USA.
出版信息
Pediatr Investig. 2020 Mar 17;4(1):59-60. doi: 10.1002/ped4.12179. eCollection 2020 Mar.
Abstract
摘要
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本文引用的文献
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Surfactant protein C dysfunction with new clinical insights for diffuse alveolar hemorrhage and autoimmunity.表面活性蛋白C功能障碍：弥漫性肺泡出血和自身免疫的新临床见解
Pediatr Investig. 2019 Dec 21;3(4):201-206. doi: 10.1002/ped4.12162. eCollection 2019 Dec.
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LRBA deficiency: a new genetic cause of monogenic lupus.脂联素受体结合蛋白缺乏症：单基因狼疮的一种新的遗传病因。
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Genetic causes of surfactant protein abnormalities.表面活性剂蛋白异常的遗传原因。
Curr Opin Pediatr. 2019 Jun;31(3):330-339. doi: 10.1097/MOP.0000000000000751.
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Genetic basis of surfactant dysfunction in Chinese children: A retrospective study.中国儿童表面活性剂功能障碍的遗传基础：一项回顾性研究。
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Expression of mutant Sftpc in murine alveolar epithelia drives spontaneous lung fibrosis.突变型 Sftpc 在小鼠肺泡上皮细胞中的表达导致自发性肺纤维化。
J Clin Invest. 2018 Aug 31;128(9):4008-4024. doi: 10.1172/JCI99287. Epub 2018 Aug 13.
6
Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.单纯的基因型并不能预测儿科患者 SFTPC 缺乏的临床过程。
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A non-BRICHOS SFTPC mutant (SP-CI73T) linked to interstitial lung disease promotes a late block in macroautophagy disrupting cellular proteostasis and mitophagy.一种与间质性肺病相关的非 BRICHOS SFTPC 突变体（SP-CI73T）会导致巨自噬晚期受阻，破坏细胞内蛋白质平衡和线粒体自噬。
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Genotype-phenotype correlation--promiscuity in the era of next-generation sequencing.基因型-表型相关性——下一代测序时代的混杂性。
N Engl J Med. 2014 Aug 14;371(7):593-6. doi: 10.1056/NEJMp1400788.
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Clinical whole-exome sequencing for the diagnosis of mendelian disorders.临床全外显子测序用于孟德尔疾病的诊断。
N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.
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Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1.与甲状腺转录因子基因 NKX2-1 突变相关的异质性肺表型。
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