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Analysis of clinical manifestations and gene mutations of Sjögren-Larsson syndrome.

??Abstract?? Objective To analyze ALDH3A2 mutation in four Chinese patients with Sjögren-Larsson syndrome ??SLS??. Methods Four patients were clinically diagnosed with SLS. Respectively take 3 ml of peripheral blood. All 11 exons and exon-intron boundaries of ALDH3A2 gene were amplified by polymerase chain reaction ??PCR?? and directly sequenced for genomic DNA. Results 1. All four patients had congenital ichthyosis?? mental retardation??and spastic diplegia or tetraplegia. Patient 1 had a compound heterozygote??c.1157A??G inherited from her father?? IVS5-1del G inherited from her mother. Both her parents had normal phenotype. Patient 2 and Patient 3 were siblings?? they were both homozygotes??a A-to-G transition at nucleotide 1157 in exon 8. The heterozygosity was demonstrated in their mother. Both her parents had normal phenotype. Conclusion Two different mutations were examined in these 4 Chinese patients?? and the SLS cases were confirmed by ALDH3A2 mutation analysis.