Combination of SMN2 copy number and NAIP deletion predicts disease severity of spinal muscular atrop

• 作 者: ZHANGYang[1]LUOYang[1]MAHong-Wei[2]CAOLi-Hua[1]LIUFang[2]WANGShu-Seng[1]
• 机 构: Research Genter for Medical Genomics, China Medical University, Shenyang, 110001
• 出 处: 第八次全国医学遗传学学术会议(中华医学会2009年医学遗传学年会)
• 发表日期: 2009年期

　　Objective Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by decreased levels of survival motor neuron protein (SMN).In the majority of cases, this decrease is due to absence of the SMN1 gene.The SMN2 gene is highly homologous to SMN1 and has been reported to be correlated with severity of the disease.The clinical presentation of SMA varies from severe to mild, with four clinical subtypes (type Ⅰ, type Ⅱ, type Ⅲ and type Ⅳ) that are assigned according to age of onset and severity of the disease.In this study, we aim to investigate the potential association between the number of copies of SMN2 and the deletion in the NAIP gene with the clinical severity of SMA in patients of Northern Chinese origin.