Abstract: WANG Hui-jun, ZHANG Jie, YIN Jing-hua, CHEN Quan, LEE Ming-yang, LIN Zhi-miao, YANG Yong. Department of Dermatology, Peking University First Hospital, Beijing 100034, China Corresponding author: LIN Zhi-miao, Email: zhimiaolin@bjmu.edu.cn 【Abstract】 Objective To assess mutations in the ALDH3A2 gene in two patients with Sjogren-Larsson syndrome manifesting primarily as congenital ichthyosis, mental retardation and spastic paraplegia. Methods Two patients, a 2-year-old girl and a 1.5-year-old boy, with Sjogren-Larsson syndrome were included in this study. None of their family members suffered from this disease. Peripheral blood samples were collected from the two patients, their family members （an elder brother and both parents）, and 100 unrelated healthy controls. DNA was extracted from the blood samples, and subjected to PCR for the amplification of 10 encoding exons and their flanking sequences of the ALDH3A2 gene followed by DNA sequencing. Results A homozygous missense mutation c.325G > A, which leads to the substitution of glycine by arginine at position 109, was detected in the ALDH3A2 gene of patient 1, whose parents and elder brother were heterozygous carriers of this mutation. The patient 2 carried compound heterozygous mutations, including c.1157A > G （p. Asn386Ser） inherited from his father and c.1294A > T （p. Arg432X） inherited from his mother. None of these mutations was detected in the unrelated healthy controls. Conclusion The homozygous mutation p. Gly109Arg and compound heterozygous mutations p. Asn386Ser and p. Arg432X present in these patients may be associated with clinical phenotypes of Sjogren-Larsson syndrome. 【Key words】 Sjogren-Larsson syndrome; Ichthyosis; Mutation; ALDH3A2 gene

Key words: ALDH3A2 gene, mutation