Donnel-Luria-Rodan(ODLURO)综合征是一种常染色体显性遗传的神经发育障碍。它在男性生命的第一个十年中更频繁地出现,并且与发育迟缓有关,智商低,自闭症谱系障碍样行为,癫痫,说话延迟,侵略,面部和骨骼畸形,胃肠道症状和低张力。虽然很少有案例被记录在案,看来表型谱可能会有所不同,尤其是在两个生物性别之间。本研究报告了一例5岁的男性患者,该患者在4岁时使用全外显子组测序被诊断为ODLURO。分子分析确定了赖氨酸甲基转移酶2E(无活性)(KMT2E)基因的新突变,被归类为一个未知意义的变体。父亲,表现为非特异性和未诊断的精神病表现,呈现相同的KMT2E变体。本研究中描述的病例不仅有趣,因为文献中描述的病例<40,还因为KMT2E基因的新遗传突变,在父亲和儿子身上,这导致了不同的表型表现。
O\'Donnel-Luria-Rodan (ODLURO) syndrome is a neurodevelopmental disorder with autosomal dominant inheritance. It appears more frequently in males during the first decade of life and is associated with developmental delay, low intelligence quotient, autism spectrum disorder-like behavior, epilepsy, speech delay, aggression, facial and skeletal deformities, gastrointestinal symptoms and hypotonia. Although few cases have been documented, it appears that the phenotype spectrum may vary, especially between the two biological sexes. The present study reported a
case of a 5-year-old male patient who was diagnosed with ODLURO at the age of 4 years using whole-exome sequencing. Molecular analysis identified a new mutation in the lysine methyltransferase 2E (inactive) (KMT2E) gene, which was classified as a variant with unknown significance. The father, who presented with non-specific and undiagnosed psychiatric manifestations, presented the same KMT2E variant. The
case described in the present study is not only interesting because there are <40 cases described in the literature, but also because a new inherited mutation in the KMT2E gene, present in both father and son, that resulted in different phenotypic manifestations was identified.