Novel gain of function mutation in the SLC40A1 gene associated with hereditary haemochromatosis type 4.

Abstract:

:Here we report the case of a 69-year-old Chinese Han woman who presented with liver cirrhosis, diabetes mellitus, skin hyperpigmentation, hyperferritinaemia and high transferrin saturation. Subsequent genetic analyses identified a novel heterozygous mutation (p.Cys326Phe) in the SLC40A1 gene. This is the first report regarding a SLC40A1 mutation in the Chinese Han population and provides novel clinical evidence for the importance of p.Cys326 in SLC40A1 gene function.

journal_name

Intern Med J

authors

Chen SR,Yang LQ,Chong YT,Jie YS,Wu YK,Yang J,Lin GL,Li XH

doi

10.1111/imj.12764

subject

Has Abstract

pub_date

2015-06-01 00:00:00

pages

672-6

issue

6

eissn

1444-0903

issn

1445-5994

journal_volume

45

pub_type

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