Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3

American Journal of Nephrology
Xinsheng WangLeping Shao

Abstract

Twenty-six HOGA1 mutations have been reported in primary hyperoxaluria (PH) type 3 (PH3) patients with c.700 + 5G>T accounting for about 50% of the total alleles. However, PH3 has never been described in Asians. A Chinese child with early-onset nephrolithiasis was suspected of having PH. We searched for AGXT, GRHPR and HOGA1 gene mutations in this patient and his parents. All coding regions, including intron-exon boundaries, were analyzed using PCR followed by direct sequence analysis. Two heterozygous mutations not previously described in the literature about HOGA1 were identified (compound heterozygous). One mutation was a successive 2 bp substitution at the last nucleotide of exon 6 and at the first nucleotide of intron 6, respectively (c.834_834 + 1GG>TT), while the other one was a guanine to adenine substitution of the last nucleotide of exon 6 (c.834G>A). Direct sequencing analysis failed to find these mutations in 100 unrelated healthy subjects and the functional role on splicing of both variants found in this study was confirmed by a minigene assay based on the pSPL3 exon trapping vector. In addition, we found a SNP in this family (c.715G>A, p.V239I). There were no mutations detected in AGXT and GRHPR. Two novel HOGA1 m...Continue Reading

Citations

Aug 27, 2016·Journal of Clinical Laboratory Analysis·Saoussen M'dimeghAli Bouslama
Apr 11, 2018·Liver International : Official Journal of the International Association for the Study of the Liver·Chunli WangBixia Zheng
May 28, 2019·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Xiaoliang FangHongquan Geng
Jun 22, 2017·Brain : a Journal of Neurology·Emil YlikallioHenna Tyynismaa

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