Redonnet-Vernhet I, Chatelut M, Salvayre R, Levade T
Laboratoire de Biochimie Médicale, Maladies Métaboliques, INSERM U. 466, CHU Rangueil, Toulouse, France.
Hum Mutat. 1998;11(4):335-6.
The molecular defects in the gene encoding the lysosomal acid lipase (LAL) were investigated in an adult male patient affected with cholesteryl ester storage disease (CESD), an autosomal recessive disorder associated with LAL deficient activity. Nucleotide sequencing of amplified LAL genomic DNA or reverse-transcribed mRNA demonstrated that this patient was a compound heterozygote for a previously reported mutation, a G-->A transition at position -1 of the exon 8 splice donor site, resulting in skipping of the complete exon 8, and for a C-->T substitution at position 233 (exon 3), which introduces a premature in-frame termination codon. This yet undescribed mutation, which results in the loss of 89% of LAL amino acids, is very likely to abolish the LAL catalytic activity.
在一名患有胆固醇酯贮积病（CESD）的成年男性患者中，研究了编码溶酶体酸性脂肪酶（LAL）的基因中的分子缺陷。CESD是一种常染色体隐性疾病，与LAL活性缺乏相关。对扩增的LAL基因组DNA或逆转录的mRNA进行核苷酸测序表明，该患者是先前报道的一种突变的复合杂合子，即外显子8剪接供体位点-1处的G→A转换，导致整个外显子8缺失，以及外显子3中233位的C→T替换，这引入了一个框内过早终止密码子。这种尚未描述的突变导致LAL氨基酸损失89%，很可能会消除LAL的催化活性。
