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Mutations of HOMEZ gene in Congenital Heart Diseases
Author(s) -
XUAN Chao,
JIA Ke-Gang,
WANG Bin-Bin,
BAI Xiao-Yan,
GAO Ge,
YANG Qin,
LIU Xiao-Cheng,
MA Xu,
HE Guo-Wei
Publication year - 2012
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.26.1_supplement.1134.8
Subject(s) - missense mutation , genetics , exon , gene , valine , biology , locus (genetics) , population , mutation , microbiology and biotechnology , medicine , amino acid , environmental health
Genome‐wide linkage analysis revealed that a potential congenital heart disease (CHD) susceptibility locus on Homeodomain leucine zipper‐encoding ( HOMEZ ) gene in a South Indian population. We aimed to identify potential pathogenic mutations for HOMEZ in isolated VSD in the Chinese population. Case‐control mutational analysis was performed in 400 patients with isolated VSD and 400 healthy controls by using PCR and sequencing. Two novel heterozygous missense mutations (c.116 C>T; c. 630T>A) were identified in HOMEZ gene exon‐2. The two mutations lead to alanine to valine substitution at the position 39 and serine to arginine at position 210 which are highly conservative among many species. The hydropathicity of the valine and arginine residue at the position 39 and 210 were significantly different from the wild type. We have identified two novel heterozygous missense mutations in HOMEZ gene exon‐2 in isolated VSD patients and have found that these two mutations resulted in alteration of the hydropathicity of the HOMEZ protein. Therefore, the two missense mutations of HOMEZ gene are directly linked with the etiology of isolated VSD in the Chinese population. Supported by National Basic Research Program of China 2010CB529502; International S&T Cooperation Program of China 2009DFB30560; Tianjin Municipal S&T Com 09ZCZDSF04200 & 10JCYBJC26400; NSFC 81170148; GRF CUHK4789/09M; CUHK2041688