Neuhann Teresa M, Stegerer Annette, Riess Angelika, Blair Edward, Martin Thomas, Wieser Stefanie, Kläs Rüdiger, Bouman Arjan, Kuechler Alma, Rittinger Olaf
MGZ Medizinisch Genetisches Zentrum, Munich, Germany.
Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Am J Med Genet A. 2015 Oct;167A(10):2376-81. doi: 10.1002/ajmg.a.37157. Epub 2015 May 14.
ADAMTSL4 mutations seem to be the most common cause of isolated ectoplia lentis (EL) and thus are important concerning the differential diagnosis of connective tissue syndromes with EL as main feature. In this study, we describe an additional cohort of patients with apparently isolated EL. All underwent a detailed clinical exam with cardiac evaluation combined with ADAMTSL4 mutation analysis. Mutations were identified in 12/15 patients with EL. Besides the European founder mutation p. (Gln256Profs38) we identified five further mutations not yet described in the literature: p. (Leu249Tyrfs21), p. (Ala388Glyfs*8), p. (Arg746His), p. (Gly592Ser), and p. (Arg865His). Clinical evaluation showed common additional ocular features such as high myopia, but no major systemic findings. In particular: no dilatation of the aortic root was reported on. This report increases the total number of patients with ADAMTSL4 mutations reported on today and reviews in detail the clinical findings in all patients reported on to date demonstrate, that these patients have a mainly ocular phenotype. There are no consistent systemic findings. The differentiation between syndromic and isolated EL is crucial for the further surveillance, treatment, and counseling of these patients, especially in young children.
ADAMTSL4突变似乎是孤立性晶状体异位（EL）最常见的病因，因此在以EL为主要特征的结缔组织综合征的鉴别诊断中具有重要意义。在本研究中，我们描述了另一组明显为孤立性EL的患者。所有患者均接受了详细的临床检查，包括心脏评估以及ADAMTSL4突变分析。在15例EL患者中有12例检测到突变。除了欧洲始祖突变p.（Gln256Profs38）外，我们还鉴定出5种文献中尚未描述的其他突变：p.（Leu249Tyrfs21）、p.（Ala388Glyfs*8）、p.（Arg746His）、p.（Gly592Ser）和p.（Arg865His）。临床评估显示存在常见的其他眼部特征，如高度近视，但未发现主要的全身表现。特别是：未报告主动脉根部扩张。本报告增加了目前报道的ADAMTSL4突变患者的总数，并详细回顾了迄今为止报道的所有患者的临床发现，表明这些患者主要表现为眼部表型。没有一致的全身表现。对于这些患者，尤其是年幼儿童，综合征性EL和孤立性EL的鉴别对于进一步的监测、治疗和咨询至关重要。
