A Novel FECH Mutation Causes Erythropoietic Protoporphyria with Severe Liver Dysfunction
Author(s):
Fang Xu , Xiaomei Wang , Xiumei Chi , Xiuting He , Yue Qi , Huijuan Peng , Junqi Niu , Yanjun Cai * , Pujun Gao
Article Type:
Research/Original Article (دارای رتبه معتبر)
Abstract:
Background
Erythropoietic protoporphyria (EPP) is a rare autosomal dominant disease that is caused by partial ferrochelatase (FECH) deficiency because of a genetic mutation in the FECH gene.
Objectives
The aim of this study was to investigate the genetic mechanism of EPP in a Chinese family.
Methods
Clinical physical examination, laboratory testing, and medical history tracking were performed for phenotyping. The FECH gene was sequenced for genotyping.
Results
The proband presented EPP with severe liver dysfunction. A novel nonsense mutation of c.910 C>T in the FECH gene, resulting in p.Arg304Ter, was identified in the proband as well as her symptomatic mother, aunt, and asymptomatic male cousin. The proband and her living family members, except the asymptomatic male cousin, carried the alleles IVS 3-48C and IVS 1-23T on the FECH gene. The mutation of c.910 C>T in the FECH gene presented its heterozygous autosomal dominant inherent clinical manifestations, only in the presence of the heterozygous alleles IVS 3-48C and IVS 1-23T. The frequencies of the alleles IVS 3-48C and IVS 1-23T were 30.8% and 27.9% in a northeast Chinese Han population, respectively.
Conclusions
A new nonsense mutation of c.910 C>T was identified in the FECH gene, which expressed EPP with severe liver dysfunction when it was co-inherited with the heterozygous alleles IVS 3-48C and IVS 1-23T, in a Chinese family.Keywords:
Language:
English
Published:
Hepatitis Monthly, Volume:18 Issue: 11, Nov 2018
Page:
3
magiran.com/p1945142
دانلود و مطالعه متن این مقاله با یکی از روشهای زیر امکان پذیر است:
اشتراک شخصی
با عضویت و پرداخت آنلاین حق اشتراک یکساله به مبلغ 1,390,000ريال میتوانید 70 عنوان مطلب دانلود کنید!
اشتراک سازمانی
به کتابخانه دانشگاه یا محل کار خود پیشنهاد کنید تا اشتراک سازمانی این پایگاه را برای دسترسی نامحدود همه کاربران به متن مطالب تهیه نمایند!
توجه!
- حق عضویت دریافتی صرف حمایت از نشریات عضو و نگهداری، تکمیل و توسعه مگیران میشود.
- پرداخت حق اشتراک و دانلود مقالات اجازه بازنشر آن در سایر رسانههای چاپی و دیجیتال را به کاربر نمیدهد.
In order to view content subscription is required
Personal subscription
Subscribe magiran.com for 70 € euros via PayPal and download 70 articles during a year.
Organization subscription
Please contact us to subscribe your university or library for unlimited access!