极为罕见的一例患者同时患有I型戊二酸血症和IIIB型黏多糖贮积症。
Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient.
作者信息
Alaei Mohammad Reza, Kheirkhahan Meghdad, Talebi Saeed, Davoudi-Dehaghani Elham, Keramatipour Mohammad
机构信息
Department of Pediatric Endocrinology and Metabolism, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
出版信息
Iran Biomed J. 2020 May;24(3):201-5. doi: 10.29252/ibj.24.3.201. Epub 2019 Nov 27.
BACKGROUND
Glutaric acidemia (GAI) and mucopolysaccharidosis type IIIB (MPSIIIB) are two rare genetic disorders caused by pathogenic variants in two different genes. Here, we report a coexistence of these two different rare disorders in an individual.
METHODS
A four-year-old Iranian boy born to first-cousin parents suspected to have MPSIIIB and/or GAI was investigated in this study. Targeted genomic enrichment and next-generation sequencing were used to examine genes related to MPS and GA. Sanger sequencing was performed to confirm the results.
RESULTS
Two homozygous likely pathogenic variants in α-N-acetylglucosaminidase (NAGLU) and GCDH genes were found and confirmed in the proband.
CONCLUSION
A combination of specific features of two different diseases in a patient has been reported here. More studies on this case and similar cases can provide more information about the effect of simultaneous pathogenic variants in different genes.
背景
戊二酸血症（GAI）和IIIB型黏多糖贮积症（MPSIIIB）是由两个不同基因中的致病变异引起的两种罕见遗传病。在此，我们报告一名个体中这两种不同罕见疾病的共存情况。
方法
本研究对一名父母为近亲的4岁伊朗男孩进行了调查，该男孩疑似患有MPSIIIB和/或GAI。采用靶向基因组富集和二代测序技术检测与MPS和GA相关的基因。进行桑格测序以确认结果。
结果
在先证者中发现并确认了α-N-乙酰氨基葡萄糖苷酶（NAGLU）和GCDH基因中的两个纯合可能致病变异。
结论
本文报道了一名患者同时出现两种不同疾病的特定特征组合。对该病例及类似病例进行更多研究可提供更多关于不同基因同时存在致病变异影响的信息。
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