A new gene involved in intellectual disability

A collaboration between the Developmental Biology Unit1, the Institute of Genetics and Molecular and Cellular Biology (IGBMC)2 and the Translational Genomics Research Institute (Tgen, US)3 has identified a new gene involved in intellectual disability. These results were published in September 2019 in The American Journal of Human Genetics4.

By focusing on five children with intellectual disabilities with similar dysmorphic characteristics, the researchers detected in each of them a heterozygous mutation that appeared de novo in the DDX6 gene, which encodes an RNA helicase from the DEAD-box family. This mutation makes the helicase unable to assemble P-Bodies. Transcriptome analysis also revealed a messenger RNA degradation defect similar to that observed in a laboratory cell line when the expression of the DDX6 protein is inactivated.

These results highlight the role of P-bodies and/or the protein DDX6 in normal brain development.

This article was the subject of a news item on the INSB website5 and in the CNRS letter "En direct des labos"

© Marianne Bénard


1Laboratoire Biologie du Développement, Team Compartimentation and intracellular traffic of mRNPs: /en/research/developmental-biology-laboratory/compartmentation-and-intracellular-traffic-of-mrnps

2L’Institut de génétique et de biologie moléculaire et cellulaire : http://www.igbmc.fr/

3Translational Genomics Research Institute: https://www.tgen.org/

4Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

Balak C, Benard M, Schaefer E, Iqbal S, Ramsey K, Ernoult-Lange M, Mattioli F, Llaci L, Geoffroy V, Courel M, Naymik M, Bachman KK, Pfundt R, Rump P, Ter Beest J, Wentzensen IM, Monaghan KG, McWalter K, Richholt R, Le Béchec A, Jepsen W, De Both M, Belnap N, Boland A, Piras IS, Deleuze JF, Szelinger S, Dollfus H, Chelly J, Muller J, Campbell A, Lal D, Rangasamy S, Mandel JL, Narayanan V, Huentelman M, Weil D, Piton A.
Am J Hum Genet. 2019 Aug 5. pii: S0002-9297(19)30273-3. doi: 10.1016/j.ajhg.2019.07.010. 

5 News on the INSB website: "Une hélicase à ARN, nouveau coupable dans la déficience intellectuelle" : https://insb.cnrs.fr/fr/cnrsinfo/une-helicase-arn-nouveau-coupable-dans-la-deficience-intellectuelle