Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2020 Oct;98(4):408-412.
doi: 10.1111/cge.13819. Epub 2020 Aug 19.

Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies

Robert Meyer  1 , Matthias Begemann  1 , Stephanie Demuth  2 , Florian Kraft  1 , Daniela Dey  1 , Herdit Schüler  1 , Sabine Busse  3 , Martin Häusler  3 , Klaus Zerres  1 , Ingo Kurth  1 , Thomas Eggermann  1 , Miriam Elbracht  1
Affiliations

Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies

Robert Meyer et al. Clin Genet. 2020 Oct.

Abstract

De novo pathogenic variants in CNOT3 have recently been reported in a developmental delay disorder (intellectual developmental disorder with speech delay, autism, and dysmorphic facies [IDDSADF, OMIM: #618672]). The patients present with a variable degree of developmental delay and behavioral problems. To date, all reported disease-causing variants occurred de novo and no parent-child transmission was observed. We report for the first time autosomal dominant transmissions of the CNOT3-associated developmental disorder in two unrelated families. The clinical characteristics in our patients match the IDDSADF features reported so far and suggest substantial variability of the phenotype within the same family.

Keywords: CNOT3; familial transmission; intellectual disability; neurodevelopmental disorder; whole-exome sequencing.

PubMed Disclaimer

References

REFERENCES

    1. Martin R, Splitt M, Genevieve D, et al. De novo variants in CNOT3 cause a variable neurodevelopmental disorder. Eur J Hum Genet. 2019;27(11):1677-1682.
    1. Boland A, Chen Y, Raisch T, et al. Structure and assembly of the NOT module of the human CCR4-NOT complex. Nat Struct Mol Biol. 2013;20:1289-1297.
    1. Deciphering Developmental Disorders Study, JF MR, Clayton S, et al. Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017;542:433-438.
    1. Firth HV, Wright CF. The deciphering developmental disorders (DDD) study. Dev Med Child Neurol. 2011;53:702-703.
    1. The Deciphering Developmental Disorders Study, Fitzgerald TW, Gerety SS, et al. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015;519:223-228.

Publication types

MeSH terms

LinkOut - more resources