神経発達障害のジェンダーに敏感なスペクトル: 19歳の女性のZMYM3変異に関する症例報告
Alberto Cordella1, Silvia Beatrice Maitz2, Daniela Distefano3
1Ente Ospedaliero Cantonale, Regional Hospital of Lugano, Department of Neurology, Neurocenter of Southern Switzerland, Lugano, Switzerland.
Frontiers in psychiatry
|September 2, 2025
まとめ
この研究では,ADHDのような神経発達障害 (NDD) の症状を引き起こす ZMYM3遺伝子変異を持つ女性を示しています. 発見は,性別特異的なZMYM3効果と,女性に合わせた遺伝的評価の必要性を強調しています.
科学分野:
- 遺伝学
- 神経科学
- 発達生物学
背景:
- 神経発達障害 (NDD) はADHDのような認知機能と社会的機能に 大きく影響します
- X染色体遺伝子ZMYM3は神経発達と関連しているが,女性におけるその役割は十分に研究されていない.
さらに関連する動画
09:37Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
9.9K
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
8.7K
関連する概念動画
Sex-linked Disorders
103.0K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
103.0K
The Y Chromosome Determines Maleness
6.8K
The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
6.8K
Autism Spectrum Disorder
335
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
335
Hybrid Zones
20.2K
Hybrid zones are narrow regions where two closely related species interact, mate, and produce hybrids. Relative to either parent species, hybrids may possess distinct phenotypic or genetic differences that impact their survival and reproductive success. The genetic variances introduced by hybridization influence species diversity and speciation processes within the hybrid zone.
20.2K
