Premium
Mutation analysis in patients with Wilson disease: Identification of 4 novel mutations
Author(s) -
Haas Regina,
GutierrezRivero Bertha,
Knoche Judith,
Böker Klaus,
Manns Michael P.,
Schmidt Hartmut H.J.
Publication year - 1999
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/(sici)1098-1004(1999)14:1<88::aid-humu15>3.0.co;2-h
Subject(s) - biology , genetics , mutation , exon , compound heterozygosity , gene , mutation testing , disease , wilson's disease , identification (biology) , medicine , botany
In order to obtain novel mutations in the recently discovered Wilson disease gene, we screened 5 unrelated German individuals for mutations in the 21 exons and their flanking intronic sequences. We detected 9 mutations affecting the Wilson disease gene. Four of those, designated 802‐808delTGTAAGT, 2008‐2013delTATATG, Cys985Thr, and Ile1148Thr have not yet been reported. One patient had a homozygous mutation whereas the remaining four subjects were compound heterozygous. Therefore these data confirm, that mutations causing Wilson disease are frequently found in affected subjects and they are very heterogenous. Hum Mutat 14:88, 1999. © 1999 Wiley‐Liss, Inc.