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首页> 外文期刊>Journal of genetics >A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem
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A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem

机译：与新临床发现相关的Pura基因的一种新型Novo突变：大脑系统

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摘要

We report the case of a Caucasian Spanish boy, who showed profound neonatal hypotonia, feeding difficulties, apnea, severe developmental delay, epilepsy, bilateral convergent strabismus, poor verbal language development and a large brainstem. Whole-exome sequence uncovered a novel de novo mutation in the purine-rich element binding protein A gene (PURA; NM_005859.4:c.72del:p.(Gly25AlafsTer53)) that encodes the transcriptional activator protein Pur-alpha (PURA). Mutations in this gene have been identified in patients with PURA syndrome, a rare disorder characterized by an early hypotonia, developmental delay, severe intellectual disability with or without epilepsy, and disability in expressive language development. Although, up to 75 cases have been identified worldwide, to the best of our knowledge, this is the first patient described with a brainstem larger than normal. In conclusion, our data expand both genetic and phenotypic spectrum associated with PURA gene mutations.
机译：我们报告了一名西班牙白人男孩的病例，他表现为严重的新生儿张力过低、进食困难、呼吸暂停、严重发育迟缓、癫痫、双侧会聚性斜视、语言发育不良和脑干过大。全外显子组序列揭示了富含嘌呤元素结合蛋白a基因（PURA；NM_005859.4:c.72del:p.（Gly25AlafsTer53））中的一个新的从头突变，该基因编码转录激活蛋白Purα（PURA）。PURA综合征是一种罕见的疾病，其特征是早期张力过低、发育迟缓、伴有或不伴有癫痫的严重智力残疾，以及表达性语言发育障碍。尽管全世界已确诊75例，但据我们所知，这是第一例脑干比正常大的患者。总之，我们的数据扩展了与PURA基因突变相关的遗传和表型谱。

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