利用下一代测序技术诊断轻度过氧化物酶体表型
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.
作者信息
Ventura Meredith J, Wheaton Dianna, Xu Mingchu, Birch David, Bowne Sara J, Sullivan Lori S, Daiger Stephen P, Whitney Annette E, Jones Richard O, Moser Ann B, Chen Rui, Wangler Michael F
机构信息
School of Medicine, Baylor College of Medicine, Houston, TX 77030, United States.
Department of Ophthalmology, University of Texas Southwestern, Dallas, TX 75390, United States; Retina Foundation of the Southwest, Dallas, TX 75231, United States.
出版信息
Mol Genet Metab Rep. 2016 Nov 11;9:75-78. doi: 10.1016/j.ymgmr.2016.10.006. eCollection 2016 Dec.
Peroxisomal biogenesis disorders (PBD) are caused by mutations in genes, and are typically diagnosed with biochemical testing in plasma followed by confirmatory testing. Here we report the unusual diagnostic path of a child homozygous for PEX1 p.G843D. The patient presented with sensorineural hearing loss, pigmentary retinopathy, and normal intellect. After testing for Usher syndrome was negative, he was found to have PBD through a research sequencing panel. When evaluating a patient with hearing loss and pigmentary retinopathy, mild PBD should be on the differential regardless of cognitive function.
过氧化物酶体生物发生障碍（PBD）由基因突变引起，通常通过血浆生化检测进行诊断，随后进行确诊检测。在此，我们报告了一名PEX1 p.G843D纯合子患儿不同寻常的诊断过程。该患者表现为感音神经性听力损失、色素性视网膜病变，智力正常。在检测尤塞综合征结果为阴性后，通过研究性测序 panel 发现他患有PBD。在评估一名患有听力损失和色素性视网膜病变的患者时，无论认知功能如何，轻度PBD都应列入鉴别诊断范围。
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