Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.

IF 2.8 3区 医学 Q2 GENETICS & HEREDITY
Jenny P Garzon, Andrea Patete, Lindsey Aschbacher-Smith, Dima Qu'd, Geraldine Kelly-Mancuso, Carolyn R Raski, Allison Goetsch Weisman, Madison Hankins, Michael Sawin, Katherine Kim, Andy Drackley, Janice Zeid, K Nicole Weaver, Robert J Hopkin, Howard M Saal, Joel Charrow, Elizabeth Schorry, Robert Listernick, Brittany N Simpson, Carlos E Prada
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引用次数: 0

Abstract

Neurofibromatosis type 1 (NF-1) microdeletion syndrome accounts for 5 to 11% of individuals with NF-1. The aim of our study was to characterize a large cohort of individuals with NF-1 microdeletion syndrome and expand its natural history. We conducted a retrospective chart review from 1994 to 2024 of individuals with NF-1 microdeletion syndrome followed at two large Neurofibromatosis Clinics. This cohort consists of 57 individuals with NF-1 microdeletion syndrome (28 type-1, 4 type-2, 2 type-3, 9 atypical deletions, and 14 indeterminate). We note 38/56 (67.9%) with describable facial features, 25/57 (43.8%) with plexiform neurofibromas, and 3/57 (5.2%) with malignant peripheral nerve sheath tumors within the observed period. The most reported neurodevelopmental manifestations from school-age or older individuals included 39/49 (79.6%) with developmental delays, 35/49 (71.4%) with expressive and/or receptive speech delays, 33/41 (80.5%) with learning difficulties, and 23/42 (54.8%) with attention-deficit/hyperactivity disorder. Full-scale IQ testing data was available for 22 individuals (range: 50-96). Of the 21 adults in this cohort, 14/21 (66.7%) graduated from high school, and 4/21 (19.0%) had some college experience. Many individuals received academic support (i.e., special education, individual education plan). In this cohort, neurocognitive outcomes in adults varied more than typically reported in the literature.

扩展神经纤维瘤病 1 型微缺失综合征的表型。
1型神经纤维瘤病(NF-1)微缺失综合征患者占NF-1患者的5%至11%。我们的研究旨在描述一大批 NF-1 微缺失综合征患者的特征,并扩展其自然史。我们对两家大型神经纤维瘤病诊所从 1994 年到 2024 年随访的 NF-1 微缺失综合征患者进行了回顾性病历审查。该队列包括 57 名 NF-1 微缺失综合征患者(28 名 1 型、4 名 2 型、2 名 3 型、9 名非典型缺失和 14 名不确定)。我们注意到,在观察期内,38/56(67.9%)例患者具有可描述的面部特征,25/57(43.8%)例患者患有丛状神经纤维瘤,3/57(5.2%)例患者患有恶性周围神经鞘瘤。学龄期或年龄较大的患者中,报告最多的神经发育表现包括:39/49(79.6%)例发育迟缓,35/49(71.4%)例表达和/或接受性言语迟缓,33/41(80.5%)例学习困难,23/42(54.8%)例注意力缺陷/多动障碍。22人(范围:50-96)有全面的智商测试数据。在这 21 名成年人中,14/21(66.7%)人高中毕业,4/21(19.0%)人有一定的大学经历。许多人接受了学业支持(即特殊教育、个人教育计划)。在这个队列中,成人神经认知结果的差异比文献中通常报道的要大。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
审稿时长
>12 weeks
期刊介绍: Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.
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