Nature communications · 2019

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен

Обработка статьи · этапы, ошибки и управление

Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Guo Hui, Bettella Elisa, Marcogliese Paul C, Zhao Rongjuan, Andrews Jonathan C, Nowakowski Tomasz J, Gillentine Madelyn A, Hoekzema Kendra, Wang Tianyun, Wu Huidan, Jangam Sharayu, Liu Cenying, Ni Hailun, Willemsen Marjolein H, van Bon Bregje W, Rinne Tuula, Stevens Servi J C, Kleefstra Tjitske, Brunner Han G, Yntema Helger G, Long Min, Zhao Wenjing, Hu Zhengmao, Colson Cindy, Richard Nicolas, Schwartz Charles E, Romano Corrado, Castiglia Lucia, Bottitta Maria, Dhar Shweta U, Erwin Deanna J, Emrick Lisa, Keren Boris, Afenjar Alexandra, Zhu Baosheng, Bai Bing, Stankiewicz Pawel, Herman Kristin, University of Washington Center for Mendelian Genomics, Mercimek-Andrews Saadet, Juusola Jane, Wilfert Amy B, Abou Jamra Rami, Büttner Benjamin, Mefford Heather C, Muir Alison M, Scheffer Ingrid E, Regan Brigid M, Malone Stephen, Gecz Jozef, Cobben Jan, Weiss Marjan M, Waisfisz Quinten, Bijlsma Emilia K, Hoffer Mariëtte J V, Ruivenkamp Claudia A L, Sartori Stefano, Xia Fan, Rosenfeld Jill A, Bernier Raphael A, Wangler Michael F, Yamamoto Shinya, Xia Kun, Stegmann Alexander P A, Bellen Hugo J, Murgia Alessandra, Eichler Evan E

Аннотация

Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed clinical and genetic data for 20 patients with likely gene-disrupting mutations in TANC2-whose protein product interacts with multiple PSD proteins. Pediatric patients with disruptive mutations present with autism, intellectual disability, and delayed language and motor development. In addition to a variable degree of epilepsy and facial dysmorphism, we observe a pattern of more complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. Although this observation requires replication to establish statistical significance, it also suggests that mutations in this gene are associated with a variety of neuropsychiatric disorders consistent with its postsynaptic function. We find that TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, but shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Ошибки и ограничения

Аннотация

Предметные рубрики MeSH