De Novo 1q21.3q22 Duplication Revaluation in a "Cold" Complex Neuropsychiatric Case with Syndromic Intellectual Disability.

De Novo 1q21.3 q22 在 “冷 ” 复杂的神经精神病例中重复重估 ， 伴有综合征性智力障碍。

• 影响指数: 4.141
• 发表时间: 03 2021 31
• 来源期刊: Genes (Basel)
• DOI: 10.3390/genes12040511
• PMID: 33807234
• 文章类型: Case Reports
• 中科院分区: Q2
• 方向: 生物
• 作者列表: Milone R,Scalise R,Pasquariello R,Berloffa S,Ricca I,Battini R

关键词: ASH1L; RIT1; SYT11; UBQLN4; movement disorder; spastic paraparesis

Mesh: Adolescent; Chromosome Duplication; Chromosomes, Human, Pair 1 / genetics; Chromosomes, Human, Pair 3 / genetics; Comparative Genomic Hybridization; Female; High-Throughput Nucleotide Sequencing; Humans; Intellectual Disability / genetics; Phenotype

Abstract

Syndromic intellectual disability often obtains a genetic diagnosis due to the combination of first and next generation sequencing techniques, although their interpretation may require revaluation over the years. Here we report on a composite neuropsychiatric case whose phenotype includes moderate intellectual disability, spastic paraparesis, movement disorder, and bipolar disorder, harboring a 1.802 Mb de novo 1q21.3q22 duplication. The role of this duplication has been reconsidered in the light of negativity of many other genetic exams, and of the possible pathogenic role of many genes included in this duplication, potentially configuring a contiguous gene-duplication syndrome.

摘要

由于第一代和下一代测序技术的结合，综合征性智力障碍通常会获得基因诊断，尽管他们的解释可能需要多年来重新估值。在这里，我们报告了一个复合神经精神病例，其表型包括中度智力障碍，痉挛性轻瘫,运动障碍,和双相情感障碍,拥有1.802Mb从头1q21.3q22重复。鉴于许多其他遗传检查的否定性，已经重新考虑了这种重复的作用，以及这种复制中包含的许多基因可能的致病作用，可能构成一个连续的基因复制综合征。