Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings

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• 作者：İnci Hande Yener ; Haluk Topaloglu ; Sevim Erdem-Ö ; zdamar and Didem Dayangac-Erden
• 刊名：Pediatrics International
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：59
• 期：1
• 页码：53-56
• 全文大小：252K
• ISSN：1442-200X

文摘

In single gene disorders, patients with the same genotype may have variations in severity. One of the main factors affecting disease severity is modifier genes. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by degeneration of alpha motor neurons. Plastin 3 (PLS3) is a phenotypic modifier of SMA, and neuritin 1 (NRN1) has also been suggested as a possible modifier gene. The aim of the present study was therefore to analyze PLS3 and NRN1 expression in SMA siblings in four families.