Recurrent AKR1D1 c.580-13T > A Variant

Δ4-3-oxosteroid 5β-reductase (AKR1D1) deficiency presents with neonatal cholestasis and liver failure in early infancy and features high levels of 3-oxo-Δ4-bile acids in urine. Genetic analysis is needed for definitive diagnosis, because in the neonatal period it can be difficult to distinguish a primary from a secondary enzyme deficiency. By re-analysis of the gene-sequencing data, one AKR1D1 noncanonical splice-site variant (NM_005989.4: c.580-13T>A) with controversial pathogenicity was discovered to be enriched in eight families with clinical and biochemically confirmed AKR1D1 deficiency.

Source: Journal of Molecular Diagnostics - February 3, 2023 Category: Pathology Authors: Jing Zhao, Yi-ling Qiu, Li Wang, Zhong-die Li, Xin-bao Xie, Yi Lu, Kenneth D.R. Setchell, Ye Cheng, Qing-he Xing, Jian-She Wang Tags: Regular article Source Type: research