Centre for Human Genetics and Molecular Medicine, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.
Mol Biol Rep. 2021 Apr;48(4):3841-3844. doi: 10.1007/s11033-021-06380-3. Epub 2021 May 4.
Primary hyperoxaluria type-III is a disorder of glyoxylate metabolism, caused by pathogenic variants in the HOGA1 gene. To date more than 50 disease-associated pathogenic sequence variants are identified in the gene. A few of the variants are population specific and are considered to have a founder effect in respective populations. The most prevalent variant, c.700+5G>T, identified frequently in Caucasian (allele frequency 0.63) and European (0.35) populations. Two variants, c.860G>T (p.Gly287Val) and c.944_946delAGG (p.Glu315del), account for 95% of the allele count in patients of Ashkenazi Jews ancestry. A possible mutational hot-spot at c.834 position is frequently found mutated in Chinese patients. This observed ethnic associations of HOGA1 alleles span a spectrum ranging from recurrence limited to an ethnic group to a possible founder-effect.
III 型原发性高草酸尿症是一种乙醛酸代谢紊乱，由 HOGA1 基因中的致病性变异引起。迄今为止，该基因已发现超过 50 种与疾病相关的致病性序列变异。少数变异是特定于人群的，被认为在各自的人群中具有创始效应。最常见的变异 c.700+5G>T，在白种人（等位基因频率 0.63）和欧洲人（0.35）中经常发现。两种变异 c.860G>T（p.Gly287Val）和 c.944_946delAGG（p.Glu315del）占阿什肯纳兹犹太人血统患者等位基因数的 95%。c.834 位置的一个可能突变热点在中国人患者中经常发生突变。HOGA1 等位基因的这种观察到的种族相关性范围从局限于一个种族的复发到可能的创始效应。
