X-linked dominant protoporphyria in a Chinese pedigree reveals a four-based deletion of ALAS2.

ABSTRACT:

Background

X-linked dominant protoporphyria (XLDPP) is a rare, hereditary disorder that leads to hepatobiliary and hematologic abnormalities including increased erythrocyte protoporphyrin, cutaneous photosensitivity, and decreased iron stores that is caused by a pathogenic mutation of ALAS2 gene.

Methods

This study aimed to confirm the existence of XLDPP in a Chinese pedigree. We observed and described the dermatoscopic findings of this disorder under dermoscopy, and assessed photo damage in XLDPP patients using the Fotofinder system and very high frequency (VHF) skin ultrasonic system. We performed next generation sequencing and Sanger sequencing to detect and confirm genetic variants in DNA samples from the XLDPP family. Moreover, we monitored the hepatobiliary func

SUBMITTER: Wang T 

PROVIDER: S-EPMC7186625 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature