Constitutional Trisomy 8 and Behcet Syndrome
Constitutional Trisomy 8 and Behcet Syndrome
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DOI：
10.1002/ajmg.a.32756
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发表时间：
2009-05-01
影响因子：
2
通讯作者：
Armour, John A. L.
中科院分区：
文献类型：
--
作者：
Becker, Kristin;FitzGerald, Oliver;Armour, John A. L.
8号三体性的典型临床特征包括不同程度的发育迟缓、关节挛缩以及深部掌跖皱褶。已有文献描述了白塞综合征的特征，该综合征发生在表型正常、患有骨髓增生异常综合征且骨髓中存在 8 三体性的个体中。在本文中，我们描述了四名患有 8 三体性的患者，他们都具有不同的临床表型，他们都出现了 Behcet 的特征，特别是但不限于皮肤粘膜溃疡。此外，我们还检查了其中一名病例（病例 1）及其父母以及 14 例白塞综合征病例的可变中性粒细胞防御素基因 DEFA1A3 的基因拷贝数，并与 121 名正常对照进行了比较。病例 1 的基因拷贝数最高（拷贝数 14），其父母的基因拷贝数也有所增加（均为 9）。然而，14 名白塞综合征患者的 DEFA1A3 平均拷贝数实际上低于对照组（平均 6.8 个拷贝）（5.1 个）。因此，我们得出的结论是，患有先天性 8 三体性的患者和仅限于骨髓的 8 三体性患者出现白塞综合征特征的风险均增加。其机制可能与8号染色体基因剂量增加有关，需要进一步分析8号染色体上的候选基因。 (c) 2009 Wiley-Liss, Inc.
The characteristic clinical features of constitutional trisomy 8 include varying degrees of developmental delay, joint contractures and deep palmar and plantar creases. There is in established literature, which describes features of Behcet syndrome occurring in phenotypically normal individuals with myelodysplastic syndromes and trisomy 8 in their bone marrow. In this article, we describe four patients with constitutional trisomy 8, all with varying clinical phenotypes, who developed features of Behcet, in particular but not exclusively mucocutaneous ulceration. In addition, we examined gene copy numbers of the variable-number neutrophil defensin genes DEFA1A3 in one of the cases (case 1) and her parents, together with 14 cases of Behcet syndrome in comparison with 121 normal controls. The gene copy number was highest in case 1 (copy number 14) and was also increased in her parents (both copy number 9). However the mean copy number for DEFA1A3 among the 14 Behcet syndrome patients was actually lower (5.1) than among the controls (mean of 6.8 copies). Thus, we conclude that patients with constitutional trisomy 8 and those with trisomy 8 confined to the bone marrow are both at increased risk of developing features of Behcet syndrome. The mechanism may relate to increased chromosome 8 gene dosage with further analysis of candidate genes on chromosome 8 required. (c) 2009 Wiley-Liss, Inc.