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目的分析4例Sjogren-Larsson综合征(Sjogren-Larsson syndrome,SLS)患儿临床特征及ALDH3A2基因突变,以明确诊断,并为遗传咨询和产前诊断提供依据。方法收集2008—2013年中国人民解放军总医院儿童医学中心收治的4例Sjogren-Larsson综合征患儿的临床资料。抽取外周静脉血各3 mL,应用二氧化硅法提取基因组DNA。采用聚合酶链反应(PCR)扩增ALDH3A2基因的11个外显子及其与内含子的连接区。PCR产物直接测序法检测基因突变。结果来自3个家系的4例患儿均存在先天性鱼鳞病、智力低下、痉挛性截瘫或四肢瘫等典型临床表现。3例患儿ALDH3A2基因测序均检出基因突变。分别为:例1,IVS5-1del G,c.1157A>G(p.Asn386Ser);例2和例3,c.1157A>G(p.Asn386Ser)纯合突变;例4基因检测未发现编码区致病突变。结论明确了4例Sjogren-Larsson综合征患儿的基因诊断,发现2个ALDH3A2基因突变位点,其中IVS5-1del G为新发突变。
Objective To analyze the clinical features and ALDH3A2 gene mutation in 4 children with Sjogren-Larsson syndrome (SLS) to confirm the diagnosis and provide basis for genetic counseling and prenatal diagnosis. Methods The clinical data of 4 children with Sjogren-Larsson syndrome admitted to Children’s Medical Center of Chinese PLA General Hospital from 2008 to 2013 were collected. Peripheral blood samples were drawn 3 mL each, and genomic DNA was extracted by silica method. The 11 exons of the ALDH3A2 gene and their junction with the intron were amplified by polymerase chain reaction (PCR). PCR product direct sequencing to detect gene mutation. Results All the 4 cases from 3 pedigrees had typical clinical manifestations of congenital ichthyosis, mental retardation, spastic paraplegia or quadriplegia. Three cases of ALDH3A2 gene sequencing gene mutations were detected. Example 1, IVS5-1delG, c.1157A> G (p.Asn386Ser); Example 2 and Example 3, c.1157A> G (p.Asn386Ser); Example 4 Gene Detection No coding region Pathogenic mutation. Conclusions The genetic diagnosis of 4 children with Sjogren-Larsson syndrome was confirmed. Two ALDH3A2 gene mutation sites were found, of which IVS5-1del G was a new mutation.