De Laurenzi V, Rogers G R, Hamrock D J, Marekov L N, Steinert P M, Compton J G, Markova N, Rizzo W B
Skin Biology Laboratory of National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892-2755, USA.
Nat Genet. 1996 Jan;12(1):52-7. doi: 10.1038/ng0196-52.
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder characterized by mental retardation, spasticity and ichthyosis. SLS patients have a profound deficiency in fatty aldehyde dehydrogenase (FALDH) activity. We have now cloned the human FALDH cDNA and show that it maps to the SLS locus on chromosome 17p11.2. Sequence analysis of FALDH amplified from fibroblast mRNA and genomic DNA from 3 unrelated SLS patients reveals distinct mutations, including deletions, an insertion and a point mutation. The cloning of FALDH and the identification of mutations in SLS patients opens up possibilities for developing therapeutic approaches to ameliorate the neurologic and cutaneous symptoms of the disease.
舍格伦-拉松综合征（SLS）是一种遗传性神经皮肤疾病，其特征为智力迟钝、痉挛和鱼鳞病。SLS患者的脂肪醛脱氢酶（FALDH）活性严重缺乏。我们现已克隆出人类FALDH cDNA，并表明它定位于17号染色体p11.2上的SLS基因座。对来自3名无关SLS患者的成纤维细胞mRNA和基因组DNA扩增的FALDH进行序列分析，发现了不同的突变，包括缺失、插入和点突变。FALDH的克隆以及SLS患者中突变的鉴定为开发改善该疾病神经和皮肤症状的治疗方法开辟了可能性。
