Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment

• Published in: Human mutation Vol. 37; no. 8; pp. 786 - 793
• Main Authors: Srour, Myriam, Caron, Véronique, Pearson, Toni, Nielsen, Sarah B., Lévesque, Sébastien, Delrue, Marie-Ange, Becker, Troy A., Hamdan, Fadi F., Kibar, Zoha, Sattler, Shannon G., Schneider, Michael C., Bitoun, Pierre, Chassaing, Nicolas, Rosenfeld, Jill A., Xia, Fan, Desai, Sonal, Roeder, Elizabeth, Kimonis, Virginia, Schneider, Adele, Littlejohn, Rebecca Okashah, Douzgou, Sofia, Tremblay, André, Michaud, Jacques L.
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.08.2016; John Wiley & Sons, Inc
• Subjects: Adolescent; Child; Child, Preschool; developmental delay; Dystonic Disorders; Female; Gain of Function Mutation; gain-of-function; Genetic disorders; Humans; Infant, Newborn; Intellectual disabilities; intellectual disability; Intellectual Disability - genetics; Male; Models, Molecular; Motor ability; movement disorder; Movement Disorders - genetics; Mutation; Mutation, Missense; Protein Conformation; RARB; Receptors, Retinoic Acid - chemistry; Receptors, Retinoic Acid - genetics; retinoic acid; Transcriptional Activation; RARB; developmental delay; retinoic acid; movement disorder; gain-of-function; intellectual disability

ABSTRACT Retinoic acid (RA) signaling plays a key role in the development and function of several systems in mammals. We previously discovered that the de novo mutations c.1159C>T (p.Arg387Cys) and c.1159C>A (p.Arg387Ser) in the RA Receptor Beta (RARB) gene cause microphthalmia and diaphragmat...