Broom M A, Wang L L, Otta S K, Knutsen A P, Siegfried E, Batanian J R, Kelly M E, Shah M
Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, MO 63104, USA.
Clin Genet. 2006 Apr;69(4):337-43. doi: 10.1111/j.1399-0004.2006.00592.x.
The ATP-dependent DNA helicase Q4 (RECQL4) belongs to a family of conserved RECQ helicases that are felt to be important in maintaining chromosomal integrity (Kitao et al., 1998, Genomics: 54 (3): 443-452). Deletions in the RECQL4 gene located on chromosome 8 region q24.3 have been associated with Rothmund-Thomson syndrome (RTS, OMIM 268400), a condition characterized by poikiloderma, sparse hair, small stature, skeletal abnormalities, cataracts and an increased risk of malignancy. We present a patient with a molecularly confirmed diagnosis of RTS with two unique genetic alterations in RECQL4 (IVS16-2A>T and IVS2+27_51del25), who at the age of 7 months nearly succumbed to Pneumocystis carinii pneumonia. Evaluation of his immune system demonstrated a T- B+ NK- phenotype with agammaglobulinemia consistent with combined immunodeficiency (CID). Studies to evaluate for known genetic causes of CID were not revealing. The patient received an umbilical cord blood (UCB) transplant with complete immune reconstitution. This report represents the first description of a CID phenotype and UCB transplantation in a patient with RTS.
ATP 依赖性 DNA 解旋酶 Q4（RECQ4）属于保守的 RECQ 解旋酶家族，人们认为该家族在维持染色体完整性方面很重要（北尾等人，1998 年，《基因组学》：54(3):443 - 452）。位于 8 号染色体 q24.3 区域的 RECQL4 基因缺失与罗思蒙德 - 汤姆森综合征（RTS，OMIM 268400）相关，该病症的特征为皮肤异色症、头发稀疏、身材矮小、骨骼异常、白内障以及恶性肿瘤风险增加。我们报告了一名经分子确诊为 RTS 的患者，其 RECQL4 基因存在两种独特的基因改变（IVS16 - 2A>T 和 IVS2 + 27_51del25），该患者在 7 个月大时险些死于卡氏肺孢子虫肺炎。对其免疫系统的评估显示为 T - B + NK - 表型，伴有无丙种球蛋白血症，符合联合免疫缺陷（CID）。评估已知 CID 遗传病因的研究未发现异常。该患者接受了脐带血（UCB）移植，免疫功能得以完全重建。本报告首次描述了 RTS 患者的 CID 表型及 UCB 移植情况。
