Fragile X Premutation Carrier Epidemiology and Symptomatology in Israel—Results from a Tertiary Child Developmental Center

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• 作者：Lidia V. Gabis ; Noah Gruber ; Michal Berkenstadt ; Shahar Shefer…
• 关键词：Fragile X ; Premutation ; Carrier ; FMR1 ; FMRP
• 刊名：The Cerebellum
• 出版年：2016
• 出版时间：October 2016
• 年：2016
• 卷：15
• 期：5
• 页码：595-598
• 全文大小：310 KB
• 刊物主题：Neurosciences; Neurology; Neurobiology;
• 出版者：Springer US
• ISSN：1473-4230
• 卷排序：15

文摘

Fragile X syndrome (FXS) is the most prevalent known genetically inherited cause for autism and intellectual disability. Premutation state can cause several clinical disorders as well. We aimed to perform a nesting approach to acquire data with regard to first degree relatives of index fragile X cases at the largest child development center in Israel in order to map characteristics of Israeli FXS permutation women carriers. Seventy-nine women were referred due to a related fragile X syndrome patient, mainly an offspring or sibling. General information regarding demographics, ethnicity, and associated medical conditions were collected using interviews and structured questionnaires. Thirteen (17 %) of the women who were referred as “carrier” were proven to be actually full mutation. The mean years of education were 14 (±1.51, range 12–17). Twenty-one women (27 %) originated from Tunisia (mainly from the island of Djerba). Ten women (13 %) reported delivery of their affected offspring beyond 41 gestational weeks. Twenty-two percent of women with premutation reported symptoms consistent with learning difficulties, mainly dyscalculia, and 14 % reported ADHD symptoms. Awareness about clinical disorders of the carriers was existent only in 25 % of the patients. Increased awareness and knowledge dissemination concerning premutation symptomatology and associated medical conditions are warranted. We suggest a national registry to be installed in different countries in order to identify fragile X premutation carriers at increased risk for various medical complications.