Sweeney Meredith O, McGee Terri L, Berson Eliot L, Dryja Thaddeus P
Ocular Molecular Genetics Institute and the Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA.
Mol Vis. 2007 Apr 5;13:588-93.
To determine the the prevalence of pathogenic mutations in the gene encoding lecithin retinol acyltransferase (LRAT) in patients from North America with either Leber congenital amaurosis (LCA) or autosomal recessive retinitis pigmentosa (ARRP).
Exon 1, exon 2, and the coding region of exon 3 of LRAT were PCR-amplified and directly sequenced from the leukocyte DNA of 82 unrelated patients with LCA and 190 unrelated patients with ARRP.
One isocoding change was found in this screen of LRAT (Glu114 GAG>GAA; c.342), and 5 other sequence changes were found in intronic or untranslated regions of the gene. None of these changes were predicted to affect the encoded protein and were therefore deemed non-pathogenic.
LRAT mutations are likely a rare cause of LCA among patients from North America.
确定北美患有莱伯先天性黑蒙（LCA）或常染色体隐性视网膜色素变性（ARRP）的患者中，编码卵磷脂视黄醇酰基转移酶（LRAT）的基因中致病突变的发生率。
对82例无亲缘关系的LCA患者和190例无亲缘关系的ARRP患者的白细胞DNA进行PCR扩增，直接测序LRAT基因的第1外显子、第2外显子和第3外显子的编码区。
在本次LRAT筛查中发现了1个等编码变化（Glu114 GAG>GAA；c.342），在该基因的内含子或非翻译区还发现了5个其他序列变化。这些变化均未预测会影响编码蛋白，因此被认为是非致病性的。
在北美患者中，LRAT突变可能是LCA的罕见病因。
