The SCN1A Mutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype. Issue 6 (13th April 2015)

• Record Type: Journal Article
• Authors: Meng, Heng; Xu, Hai‐Qing; Yu, Lu; Lin, Guo‐Wang; He, Na; Su, Tao; Shi, Yi‐Wu; Li, Bin; Wang, Jie; Liu, Xiao‐Rong; Tang, Bin; Long, Yue‐Sheng; Yi, Yong‐Hong; Liao, Wei‐Ping
• Is Part Of: Human mutation. Volume 36:Issue 6(2015:Jun.)
• Page Start: 573
• Page End: 580
• Publication Date: 2015-04-13
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22782
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22782-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We systematically reviewed <italic>SCN1A</italic> mutations and established a database with sections detailing functional alteration (funotype) and inheritance. Further analyses indicated a close genotype‐funotype‐phenotype relationship. Mutations located in different sodium channel regions were associated with distinct funotype and subsequently different phenotype severity, suggesting that funotype is critical in evaluating pathogenicity. A negative correlation was found between phenotype severity and familial incidence, incomplete penetrance was associated with missense and splice‐site mutations, but not truncations or genomic rearrangements, suggesting clinical genetic counseling applications. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgjn7pvm21" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>