Premium
Mutations in ATP‐cassette binding proteins G5 ( ABCG5 ) and G8 ( ABCG8 ) causing sitosterolemia
Author(s) -
Hubacek Jaroslav A.,
Berge Knut E.,
Cohen Jonathan C.,
Hobbs Helen H.
Publication year - 2001
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1206
Subject(s) - biology , frameshift mutation , missense mutation , genetics , mutation , gene
Sitosterolemia is an autosomal recessive disorder caused by mutations in two adjacent genes encoding coordinately regulated ATP binding cassette (ABC) half transporters (ABCG5 and ABCG8). In this paper we describe three novel mutations causing sitosterolemia: 1) a frameshift mutation (c.336‐337insA) in ABCG5 that results in premature termination of the protein at amino acid 197; 2) a missense mutation that changes a conserved residue c.1311C>G; N437K) in ABCG5 and 3) a splice site mutation in ABCG8 (IVS1‐2A>G). This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia. Nine nonsynonymous polymorphisms are also reported: I523V, C600Y, Q604E, and M622V in ABCG5 ; and D19H, Y54C, T400K, A632V, and Y641F in ABCG8 . Hum Mutat 18:359–360, 2001. © 2001 Wiley‐Liss, Inc.