Department of Biology, University of Padova, Via G. Colombo 3, 35135 Padova, Italy.
J Neurol Sci. 2010 Jul 15;294(1-2):124-6. doi: 10.1016/j.jns.2010.03.030. Epub 2010 May 5.
X-linked hydrocephalus, MASA syndrome, X-linked complicated Spastic Paraplegia Type I and X-linked partial agenesis of the corpus callosum are the four rare diseases usually referred to L1 syndrome, caused by mutations in the L1CAM gene. By direct sequencing of L1CAM in 16 patients, we were able to identify seven mutations, five of which were never described before. Patients' phenotype evaluation revealed a correlation between the number of clinical features typical of L1 syndrome and the chance to find causative mutation. Our findings support that L1CAM mutations are associated with widely heterogeneous phenotypes, however the occurrence of several clinical features remains the best criterion for planning molecular testing both in familial and apparently sporadic cases.
X 连锁脑积水、MASA 综合征、X 连锁复杂痉挛性截瘫 I 型和 X 连锁胼胝体部分发育不全是四种罕见疾病，通常被称为 L1 综合征，由 L1CAM 基因突变引起。通过对 16 名患者的 L1CAM 进行直接测序，我们能够鉴定出 7 种突变，其中 5 种从未被描述过。对患者表型的评估表明，L1 综合征的典型临床特征的数量与发现致病突变的几率之间存在相关性。我们的研究结果支持 L1CAM 突变与广泛的异质性表型相关，但出现几种临床特征仍然是在家族性和明显散发性病例中进行分子检测的最佳标准。
