Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research

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• 作者：Anne M. Comi ; MD^a ; ^b ; ^{comi@kennedykrieger.org" class="auth_mail" title="E-mail the corresponding author} ; Mustafa Sahin ; MD ; PhD^c ; Adrienne Hammill ; MD ; PhD^d ; Emma H. Kaplan ; BA^a ; Csaba Juhá ; sz ; MD ; PhD^e ; ^f ; Paula North ; MD ; PhD^g ; Karen L. Ball ; BS^h ; Alex V. Levin ; MD ; MHSc ; FRCSCⁱ ; ^j ; Bernard Cohen ; MD^b ; ^k ; Jill Morris ; PhD^l ; Warren Lo ; MD^m ; E. Steve Roach ; MD^m ; ; participants of the 2015 Sturge-Weber Syndrome Research WorkshopNicolas Abreu ; MD ; Maria Acosta ; MD ; Karen L. Ball ; Audina Berrocal ; MD ; Joyce Bischoff ; PhD ; James Brodie ; Craig Burkhart ; MD ; Bernard Cohen ; MD ; Anne M. Comi ; MD ; Gosia Dymerska ; David Eckstein ; PhD ; Mabel Enriquez-Algeciras ; Joshua Ewen ; MD ; Brian Fisher ; Sharon Freedman ; MD ; Emily Germain-Lee ; MD ; Roy Geronemus ; MD ; Michael Gold ; MD ; Rashmi Gopal-Srivastava ; MS ; PhD ; Adrienne Hammill ; MD ; PhD ; Adelaide Hebert ; MD ; Lan Huang ; PhD ; Henry Jampel ; MD ; MHS ; Csaba Juhá ; sz ; MD ; PhD ; Emma H. Kaplan ; Matsanga Kaseka ; MD ; Yasmine Kirkorian ; MD ; Eric Kossoff ; MD ; Alex V. Levin ; MD ; MHSc ; FRCSC ; Doris Lin ; MD ; PhD ; Warren Lo ; MD ; Jeffrey Loeb ; MD ; PhD ; Kalyani Marathe ; MD ; MPH ; Doug Marchuk ; PhD ; Alice Mead ; JD ; Scott Mellis ; MD ; PhD ; Jill Morris ; PhD ; Timothy Murray ; MD ; MBA ; FACS ; Paula North ; MD ; PhD ; Thuy Phung ; MD ; PhD ; Anna Pinto ; MD ; PhD ; Kate Puttgen ; MD ; Nancy Ratner ; PhD ; Jennifer Reeve ; MD ; PhD ; Steve Roach ; MD ; Mustafa Sahin ; MD ; PhD ; Charles Swindell ; PhD ; Hung Tseng ; PhD ; Miriya Tune ; Sarah Wetzel-Strong ; PhD ; Monica White ; PharmD ; Vicky Whittemore ; PhD
• 关键词：Sturge-Weber syndrome ; GNAQ ; somatic mutation ; port-wine birthmark ; glaucoma ; seizures
• 刊名：Pediatric Neurology
• 出版年：2016
• 出版时间：May 2016
• 年：2016
• 卷：58
• 期：Complete
• 页码：12-24
• 全文大小：704 K

文摘

Sturge-Weber syndrome (SWS) is a vascular neurocutaneous disorder that results from a somatic mosaic mutation in GNAQ, which is also responsible for isolated port-wine birthmarks. Infants with SWS are born with a cutaneous capillary malformation (port-wine birthmark) of the forehead or upper eyelid which can signal an increased risk of brain and/or eye involvement prior to the onset of specific symptoms. This symptom-free interval represents a time when a targeted intervention could help to minimize the neurological and ophthalmologic manifestations of the disorder. This paper summarizes a 2015 SWS workshop in Bethesda, Maryland that was sponsored by the National Institutes of Health. Meeting attendees included a diverse group of clinical and translational researchers with a goal of establishing research priorities for the next few years. The initial portion of the meeting included a thorough review of the recent genetic discovery and what is known of the pathogenesis of SWS. Breakout sessions related to neurology, dermatology, and ophthalmology aimed to establish SWS research priorities in each field. Key priorities for future development include the need for clinical consensus guidelines, further work to develop a clinical trial network, improvement of tissue banking for research purposes, and the need for multiple animal and cell culture models of SWS.