Sobol Maria, Dahl Niklas, Klar Joakim
Department of Immunology, Genetics and Pathology, Science for Life Laboratory and Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.
BMC Res Notes. 2011 Mar 30;4:90. doi: 10.1186/1756-0500-4-90.
Ichthyosis Prematurity Syndrome (IPS) is an autosomal recessive disorder characterized by premature birth, non-scaly ichthyosis and atopic manifestations. The disease was recently shown to be caused by mutations in the gene encoding the fatty acid transport protein 4 (FATP4) and a specific reduction in the incorporation of very long chain fatty acids (VLCFA) into cellular lipids.
We screened probands from five families segregating IPS for mutations in the FATP4 gene. Four probands were compound heterozygous for four different mutations of which three are novel. Four patients were heterozygous and one patient homozygous for the previously reported non-sense mutation p.C168X (c.504c > a). All patients had clinical characteristics of IPS and a similar clinical course.
Missense mutations and non-sense mutations in FATP4 are associated with similar clinical features suggesting that missense mutations have a severe impact on FATP4 function. The results broaden the mutational spectrum in FATP4 associated with IPS for molecular diagnosis of and further functional analysis of FATP4.
鱼鳞病早产综合征（IPS）是一种常染色体隐性疾病，其特征为早产、无鳞屑鱼鳞病和特应性表现。最近研究表明，该疾病是由编码脂肪酸转运蛋白4（FATP4）的基因突变以及超长链脂肪酸（VLCFA）掺入细胞脂质的特定减少所致。
我们对五个患有IPS的家系中的先证者进行了FATP4基因突变筛查。四名先证者为四种不同突变的复合杂合子，其中三种为新发现的突变。四名患者为先前报道的无义突变p.C168X（c.504c>a）的杂合子，一名患者为该突变的纯合子。所有患者均具有IPS的临床特征和相似的临床病程。
FATP4中的错义突变和无义突变与相似的临床特征相关，这表明错义突变对FATP4功能有严重影响。这些结果拓宽了与IPS相关的FATP4的突变谱，有助于FATP4的分子诊断和进一步的功能分析。
