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PARK2 Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature

机译：PARK2微复制：进一步病例的临床和分子表征及文献复习

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We report on a patient with psychomotor deficits, language delay, dyspraxia, skeletal anomalies, and facial dysmorphisms (hirsutism, right palpebral ptosis, a bulbous nasal tip with enlarged and anteverted nares, and a mild prominent antihelix stem). Using high-resolution SNP array analysis, we identified a 0.49-Mb microduplication in chromosome 6q26 inherited from the mother involving the PARK2 gene: arr[hg19] 6q26(162,672,821-163,163,143)×3 mat. To the best of our knowledge, this is the third patient to date described in whom a 6q26 microduplication encompassing only the PARK2 gene has been reported in medical literature. The PARK2 gene is a neurodevelopmental gene that was initially discovered as one of the causes of autosomal recessive juvenile Parkinson disease and subsequently reported to be linked to autism spectrum disorders and attention-deficit hyperactivity disorders. We provide an overview of the literature on PARK2 microduplications and further delineate the associated phenotype. Taken together, our findings confirm the involvement of this gene in neurodevelopmental disorders and are useful to strengthen the hypothesis that, although with variable expressivity and incomplete penetrance, the PARK2 microduplication is associated with a new emerging neurodevelopmental delay syndrome. However, clinical and molecular evaluations of more patients with the microduplication are needed for full delineation of this syndrome.
机译：我们报道了一名患者的精神运动缺陷，语言延迟，发育不良，骨骼异常和面部畸形（多毛症，右睑睑下垂，鼻腔鳞状鼻尖增大和鼻孔增大以及轻度突出的抗螺旋茎）。使用高分辨率SNP阵列分析，我们确定了从母亲继承的涉及PARK2基因的染色体6q26中有0.49-Mb微复制，该基因是arr [hg19] 6q26（162,672,821-163,163,143）×3 mat。据我们所知，这是迄今为止描述的第三位患者，在医学文献中已经报道了仅包含PARK2基因的6q26微复制。 PARK2基因是一种神经发育基因，最初被发现为常染色体隐性遗传性少年帕金森氏病的病因之一，随后被报道与自闭症谱系障碍和注意力缺陷多动障碍有关。我们提供了有关PARK2微复制的文献综述，并进一步描述了相关的表型。综上所述，我们的研究结果证实了该基因与神经发育障碍有关，并有助于加强这一假设，即尽管具有可变的表达能力和不完全的外显，PARK2微复制与新出现的神经发育延迟综合征有关。然而，要全面描述该综合征，需要对更多具有微复制的患者进行临床和分子评估。

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