转化生长因子β受体2（TGFBR2）突变的父系体细胞嵌合现象传递给了一名患有洛伊斯-迪茨综合征的患病儿子。

Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome.

作者信息

Watanabe Yoriko, Sakai Haruya, Nishimura Akira, Miyake Noriko, Saitsu Hirotomo, Mizuguchi Takeshi, Matsumoto Naomichi

机构信息

Department of Pediatrics, Kurume University Graduate School of Medicine, Kurume, Japan.

出版信息

Am J Med Genet A. 2008 Dec 1;146A(23):3070-4. doi: 10.1002/ajmg.a.32567.

DOI:10.1002/ajmg.a.32567

PMID:19006214

Abstract

We report on somatic mosaicism of a TGFBR2 missense mutation, c.1336G>A (D446N). The affected son with the heterozygous mutation was previously reported [Sakai et al. (2006); Am J Med Genet A 140A:1719-1725]. Further evaluation indicates his clinical condition is Loeys-Dietz syndrome. Parental blood samples were studied to confirm whether the propositus' mutation was a de novo change, and suggested a trace of the mutation in the father. DNAs extracted from blood leukocytes, buccal cells, hair root cells, and nails in the father indicated 52%, 25%, 0%, and 35% of cells harbored the mutation, respectively. This is the first detailed report of somatic mosaicism of a TGFBR2 mutation.

摘要

我们报告了一例TGFBR2错义突变c.1336G>A（D446N）的体细胞镶嵌现象。携带杂合突变的患病儿子此前已有报道[酒井等人（2006年）；《美国医学遗传学杂志A》140A:1719 - 1725]。进一步评估表明他的临床病症为洛伊斯 - 迪茨综合征。对父母的血液样本进行研究以确认先证者的突变是否为新发突变，结果显示父亲体内存在微量该突变。从父亲的血液白细胞、颊细胞、发根细胞和指甲中提取的DNA表明，分别有52%、25%、0%和35%的细胞携带该突变。这是关于TGFBR2突变体细胞镶嵌现象的首份详细报告。