Genetic analysis of acute intermittent porphyria caused by novel classical splicing variant in the insertion region of 29-residue specific to human HMBS protein.

ABSTRACT: Background: Acute intermittent porphyria (AIP; OMIM#176000) is a genetic disorder that is caused by mutations in the hydroxymethylbilane synthetase (HMBS) gene. This gene encodes the third enzyme in the heme biosynthesis pathway. Human HMBS (hHMBS) contains a 29-residue insert (residues 296-324) at the interface between domains 1 and 3. The function of this insert is currently unknown. In this study, a previously unidentified classical Splicing variant was discovered in the HMBS gene of a female AIP patient from China. The variant was validated through comparison with the patient's husband and daughter. Methods: Peripheral blood samples were obtained from the patient, the patient's husband, and their daughter. Gene expression was analyzed using who

SUBMITTER: Liang L 

PROVIDER: S-EPMC10448817 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature