Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama.
Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee.
Pediatr Neurol. 2024 Dec;161:263-267. doi: 10.1016/j.pediatrneurol.2024.09.022. Epub 2024 Sep 30.
To assess the age and MECP2 variants of recently identified males and set the stage for further study of clinical features in males.
Genetic information on the specific MECP2 variant was acquired from the coordinator (K.F.) of the Parent Group for Males. Data were collected indicating whether these variants were de novo or transmitted from the mother and whether males who appeared to meet the diagnostic criteria for Rett syndrome had mosaicism for the MECP2 variant.
Fifty-nine males were identified through the parent group. Their ages ranged from 2 to 28 years, with the median age being 7.0 years and the mean age being 10.8 years. Of these variants, 46 (78.0%) were de novo, nine (15.3%) were maternally inherited, and for four (6.8%) inheritance was not known. Eleven (18.6%) were mosaic, 10 with somatic mosaicism and one with Klinefelter syndrome (47XXY). Together with males reported previously from the US Natural History Study, the total group represents 85 males, of whom 27 are deceased.
These data on males with MECP2 variants are important to caregivers, physicians, and researchers to begin to characterize their historical and clinical features, improve diagnostic recognition and overall care, and accelerate access to therapeutic studies including gene replacement strategies. Equal access to such therapies for males is critical.
评估最近发现的男性的年龄和 MECP2 变体，为进一步研究男性的临床特征奠定基础。
从男性家长团体的协调员（K.F.）处获取特定 MECP2 变体的遗传信息。收集的数据表明这些变体是从头发生的还是从母亲那里传递的，以及那些似乎符合 Rett 综合征诊断标准的男性是否存在 MECP2 变体的嵌合体。
通过家长团体发现了 59 名男性。他们的年龄从 2 岁到 28 岁不等，中位数年龄为 7.0 岁，平均年龄为 10.8 岁。这些变体中，46 个（78.0%）是从头发生的，9 个（15.3%）是从母亲那里遗传的，对于 4 个（6.8%），遗传情况未知。11 个（18.6%）是嵌合体，其中 10 个是体细胞嵌合体，1 个是 Klinefelter 综合征（47XXY）。加上之前从美国自然史研究中报告的男性，总共有 85 名男性，其中 27 名已经去世。
这些关于 MECP2 变体男性的数据对护理人员、医生和研究人员来说非常重要，以便开始描述他们的历史和临床特征，提高诊断识别和整体护理水平，并加速获得治疗研究的机会，包括基因替代策略。为男性提供平等获得这些治疗的机会至关重要。
