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Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene
Journal of Alzheimer’s Disease ( IF 4 ) Pub Date : 2021-08-27 , DOI: 10.3233/jad-210648
Guillermo González-Ortega 1 , Sara Llamas-Velasco 1, 2, 3 , Ana Arteche-López 4 , Juan Francisco Quesada-Espinosa 4 , Verónica Puertas-Martín 1, 5 , Adolfo Gómez-Grande 6 , Jorge López-Álvarez 7 , Rosa Ana Saiz Díaz 1, 8, 9 , José Miguel Lezana-Rosales 4 , Alberto Villarejo-Galende 1, 2, 3, 8 , Jesús González de la Aleja 1, 9
Affiliation  

The haploinsufficiency of the methyl-binding domain protein 5 (MBD5) gene has been identified as the determinant cause of the neuropsychiatric disorders grouped under the name MBD5-neurodevelopment disorders (MAND). MAND includes patients with intellectual disability, behavioral problems, and seizures with a static clinical course. However, a few reports have suggested regression. We describe a non-intellectually disabled female, with previous epilepsy and personality disorder, who developed early-onset dementia. The extensive etiologic study revealed a heterozygous nonsense de novo pathogenic variant in the MBD5 gene. This finding could support including the MBD5 gene in the study of patients with atypical early-onset dementia.

中文翻译:

与 MBD5 基因中的杂合、无意义和从头变异相关的早发性痴呆

甲基结合域蛋白 5 (MBD5) 基因的单倍体不足已被确定为归类为 MBD5-神经发育障碍 (MAND) 的神经精神障碍的决定性原因。MAND 包括患有智力障碍、行为问题和具有静态临床病程的癫痫发作的患者。然而,一些报告建议回归。我们描述了一名非智障女性,之前患有癫痫症和人格障碍,后来发展为早发性痴呆症。广泛的病因学研究揭示了 MBD5 基因中杂合的无意义的从头致病变异。这一发现可能支持将 MBD5 基因纳入非典型早发性痴呆患者的研究中。
更新日期:2021-08-29
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