Sillén A, Anton-Lamprecht I, Braun-Quentin C, Kraus C S, Sayli B S, Ayuso C, Jagell S, Küster W, Wadelius C
Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
Hum Mutat. 1998;12(6):377-84. doi: 10.1002/(SICI)1098-1004(1998)12:6<377::AID-HUMU3>3.0.CO;2-I.
The gene encoding the human fatty aldehyde dehydrogenase (FALDH) is located on 17p11.2, causing Sjögren-Larsson syndrome (SLS) when mutated. SLS is an autosomal recessive disorder characterized by a combination of mental retardation, congenital ichthyosis, and spastic di- or tetraplegia. We report here on studies of 16 SLS families from Europe and the Middle East, which resulted in identification of 11 different mutations. The spectrum of mutations characterized in the present study are five nucleotide substitutions resulting in amino acid changes, five frameshift mutations introducing a stop codon, and one in-frame deletion with insertion at the same position. We also observed silent sequence variants in the FALDH gene and a base pair substitution in exon 5 that alters aspartic acid to asparagine, all of which are considered polymorphisms.
编码人类脂肪醛脱氢酶（FALDH）的基因位于17p11.2，发生突变时会导致舍格伦 - 拉松综合征（SLS）。SLS是一种常染色体隐性疾病，其特征为智力迟钝、先天性鱼鳞病和痉挛性双瘫或四肢瘫的组合。我们在此报告了对来自欧洲和中东的16个SLS家族的研究，结果鉴定出11种不同的突变。本研究中所表征的突变谱包括五个导致氨基酸变化的核苷酸替换、五个引入终止密码子的移码突变，以及一个在同一位置有插入的框内缺失。我们还在FALDH基因中观察到沉默序列变体以及外显子5中的一个碱基对替换，该替换将天冬氨酸变为天冬酰胺，所有这些都被认为是多态性。
