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Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype.
European Journal of Medical Genetics ( IF 1.9 ) Pub Date : 2020-05-11 , DOI: 10.1016/j.ejmg.2020.103941
Rodrigo Tzovenos Starosta 1 , Jessica Tarnowski 2 , Filippo Pinto E Vairo 2 , Kimiyo Raymond 3 , Graeme Preston 4 , Eva Morava 2
Affiliation  

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant syndrome of developmental delay, cortical vision loss with optic nerve atrophy, epilepsy, and autism spectrum disorder. Due to its many overlapping features with congenital disorders of glycosylation (CDG), the differential diagnosis between these disorders may be difficult and relies on molecular genetic testing. We report on a 31-year-old female initially diagnosed with ALG6-CDG based on glycosylation abnormalities on transferrin isoelectrofocusing and targeted genetic testing, and later diagnosed with BBSOAS by whole-exome sequencing (WES). Functional studies on cultured fibroblasts including Western blotting and RT-qPCR, as well as mass spectrometry of glycosylated transferrin and MALDI-TOF glycan analysis in serum, demonstrated normal glycosylation in this patient. In this report, we extend the phenotype of BBSOAS with ataxia and protein-losing enteropathy. This case is illustrative of the utility of whole exome sequencing in the diagnostic odyssey, and the potential pitfalls of relying on focused genetic testing results for diagnosis of conditions with complex overlapping phenotypes.



中文翻译:

最初被诊断为ALG6-CDG的Bosch-Boonstra-Schaaf视神经萎缩综合征(BBSOAS):ALG6 c.391T> C(p.Tyr131His)变体良性的功能证据,并进一步扩大了BBSOAS表型。

Bosch-Boonstra-Schaaf视神经萎缩综合征(BBSOAS)是最近描述的常染色体显性遗传综合征,包括发育迟缓,视神经萎缩,视神经萎缩,癫痫和自闭症谱系障碍。由于其与先天性糖基化疾病(CDG)的许多重叠特征,这些疾病之间的鉴别诊断可能很困难,并且依赖于分子遗传学检测。我们报告了一名31岁的女性,最初在转铁蛋白等电聚焦和靶向基因测试中基于糖基化异常被诊断出患有ALG6-CDG,后来通过全外显子组测序(WES)诊断为BBSOAS。对培养的成纤维细胞进行功能研究,包括蛋白质印迹和RT-qPCR,以及质谱分析血清中糖基化转铁蛋白和MALDI-TOF聚糖,在该患者中证实糖基化正常。在本报告中,我们扩展了共济失调和蛋白质丢失性肠病的BBSOAS表型。这种情况说明了整个外显子组测序在诊断性奥德赛中的效用,以及依靠集中的基因检测结果来诊断具有复杂重叠表型的疾病的潜在陷阱。

更新日期:2020-05-11
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