mapk8ip3相关神经发育障碍的综合临床特征、纵向适应功能和脑电图活动

IF 2.3 3区 医学 Q2 GENETICS & HEREDITY
Khemika K Sudnawa, Alexa Geltzeiler, Cara H Kanner, Kyle Zreibe, Nicolò Pini, Celia Tam, Robert J Fee, Sean Calamia, Emily Callejo, Holli Sharples, Catherine E Serianni, Michela Fagiolini, Ellen Hanson, Jacqueline Montes, April Levin, Wendy K Chung
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引用次数: 0

摘要

丝裂原活化蛋白激酶8相互作用蛋白3相关神经发育障碍(MAPK8IP3相关NDD)是由MAPK8IP3杂合致病或可能致病的变异引起的。我们报告了32个个体(中位年龄7.5岁,范围1.3-22.0),他们都有杂合致病/可能致病的MAPK8IP3变异,包括错义(62.5%)和预测的功能丧失(LOF)变异(34.4%)。常见症状包括认知障碍、张力低下、运动困难、斜视、小头畸形和注意力缺陷。62.1%的人报告胼胝体变薄。几乎所有人都独立行走,但与对照组相比,他们表现出更慢的步态速度和更宽的支撑基础。平均DAS-II一般概念能力得分为62.5±26.5。脑电图分析表明,与正常发育的个体相比,他们有较低的功率强化频率的趋势。错义变异比LOF变异与更严重的症状相关。本研究为临床特征、患者管理和未来临床试验提供了有价值的见解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Comprehensive Clinical Characteristics, Longitudinal Adaptive Functioning, and Electroencephalogram Activity in MAPK8IP3-Related Neurodevelopmental Disorder.

Mitogen-activated protein kinase 8-interacting protein 3-related neurodevelopmental disorder (MAPK8IP3-related NDD) results from heterozygous pathogenic or likely pathogenic variants in MAPK8IP3. We report on 32 individuals (median age 7.5 years, range 1.3-22.0), all of whom had heterozygous pathogenic/likely pathogenic MAPK8IP3 variants, including missense (62.5%) and predicted loss-of-function (LOF) variants (34.4%). Common symptoms included cognitive impairment, hypotonia, motor difficulties, strabismus, microcephaly, and attention deficits. Corpus callosum thinning was reported in 62.1%. Nearly all individuals walked independently but demonstrated slower gait speed and a wider base of support compared to controls. The mean DAS-II General Conceptual Ability score was 62.5 ± 26.5. EEG analysis suggested a trend toward lower power accentuated frequency compared to typically developing individuals. Missense variants were associated with more severe symptoms than LOF variants. This study provides valuable insights into the clinical characteristics, patient management, and preparation for future clinical trials.

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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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