Lowe syndrome (LS) is an X-linked disorder affecting the eyes, nervous system and kidneys, typically caused by missense or nonsense/frameshift OCRL mutations. We report a 6-month-old male clinically suspected to have LS, but without the Fanconi-type renal dysfunction. Using a targeted-exome sequencing-first approach, LS was diagnosed by the identification of a deletion involving 1.7 Mb at Xq25-q26.1, encompassing the entire OCRL gene and neighboring loci.

中文翻译：

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外显子优先方法发现了一种与 Lowe 综合征相关的新型光泽缺失。

Lowe 综合征 (LS) 是一种 X 连锁疾病，影响眼睛、神经系统和肾脏，通常由错义或无义/移码 OCRL 突变引起。我们报告了一名 6 个月大的男性，临床怀疑患有 LS，但没有范可尼型肾功能障碍。使用靶向外显子组测序优先方法，通过鉴定 Xq25-q26.1 处 1.7 Mb 的缺失（涵盖整个 OCRL 基因和邻近基因座）来诊断 LS。