Abstract：
BACKGROUND: Schwannomatosis is the third subtype of neurofibromatosis. Schwannomatosis, particularly the familial variant, is uncommon. Recently, germline mutations of the SMARCB1 gene have been found to cause schwannomatosis. In this report, we describe a case of familial inherited intraspinal schwannomatosis. Postoperative pathology indicated a schwannoma. The results of gene testing showed that the SMARCB1 gene had a spliced mutation.
METHODS: A patient with a rare case of familial intraluminal schwannomatosis was admitted to our hospital. Peripheral blood gene testing was performed on the patient and her son, and a splice mutation of the SMARCB1 gene located at C. 1118+1G>A on intron 8 was identified.
CONCLUSIONS: Schwannomatosis is an incomplete dominant autosomal dominant genetic disorder. The structural and functional abnormalities of proteins caused by mutations in the SMARCB1 gene may be the molecular basis for familial schwannomatosis.
METHODS: A patient with a rare case of familial intraluminal schwannomatosis was admitted to our hospital. Peripheral blood gene testing was performed on the patient and her son, and a splice mutation of the SMARCB1 gene located at C. 1118+1G>A on intron 8 was identified.
CONCLUSIONS: Schwannomatosis is an incomplete dominant autosomal dominant genetic disorder. The structural and functional abnormalities of proteins caused by mutations in the SMARCB1 gene may be the molecular basis for familial schwannomatosis.
摘要：
背景：神经鞘瘤病是神经纤维瘤病的第三种亚型。神经鞘瘤病,特别是家族变体，是不常见的。最近,已发现SMARCB1基因的种系突变可引起神经鞘瘤病。在这份报告中,我们描述了一例家族性遗传性椎管内神经鞘瘤病。术后病理提示神经鞘瘤。基因检测结果显示SMARCB1基因存在剪接突变。
方法：我院收治一例罕见的家族性神经鞘瘤病。对患者及其儿子进行了外周血基因检测,并鉴定了位于内含子8上C.11181G>A的SMARCB1基因的剪接突变。
结论：神经鞘瘤病是一种不完全显性常染色体显性遗传病。由SMARCB1基因突变引起的蛋白质结构和功能异常可能是家族性神经鞘瘤病的分子基础。
方法：我院收治一例罕见的家族性神经鞘瘤病。对患者及其儿子进行了外周血基因检测,并鉴定了位于内含子8上C.11181G>A的SMARCB1基因的剪接突变。
结论：神经鞘瘤病是一种不完全显性常染色体显性遗传病。由SMARCB1基因突变引起的蛋白质结构和功能异常可能是家族性神经鞘瘤病的分子基础。
