Impaired Development of Neural‐Crest Cell‐Derived Organs and Intellectual Disability Caused by MED13L Haploinsufficiency. Issue 11 (23rd September 2014)

• Record Type: Journal Article
• Authors: Utami, Kagistia Hana; Winata, Cecilia Lanny; Hillmer, Axel M.; Aksoy, Irene; Long, Hoang Truong; Liany, Herty; Chew, Elaine G. Y.; Mathavan, Sinnakaruppan; Tay, Stacey K. H.; Korzh, Vladimir; Sarda, Pierre; Davila, Sonia; Cacheux, Valere
• Is Part Of: Human mutation. Volume 35:Issue 11(2014:Nov.)
• Page Start: 1311
• Page End: 1320
• Publication Date: 2014-09-23
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22636
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22636-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Several reports have identified structural variants and mutations affecting <italic>MED13L</italic> in patients with heart defects, craniofacial anomalies, and intellectual disability. In this study we functionally demonstrated that depletion of its orthologue in zebrafish model could recapitulate the craniofacial abnormalities in human and the observed phenotype can be reversed by introducing intact human mRNA, suggesting that gene dosage is required for normal gene function. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh2cjmnj4h" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>