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Expanding the phenotype of TAB2 variants and literature review

Lookup NU author(s): Dr Richard Fisher



This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).


© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. TAB2 is a gene located on chromosome 6q25.1 and plays a key role in development of the heart. Existing literature describes congenital heart disease as a common recognized phenotype of TAB2 gene variants, with evidence of a distinct syndromic phenotype also existing beyond this. Here we describe 14 newly identified individuals with nine novel, pathogenic TAB2 variants. The majority of individuals were identified through the Deciphering Developmental Disorders study through trio whole exome sequencing. Eight individuals had de novo variants, the other six individuals were found to have maternally inherited, or likely maternally inherited, variants. Five individuals from the same family were identified following cardiac disease gene panel in the proband and subsequent targeted familial gene sequencing. The clinical features of this cohort were compared to the existing literature. Common clinical features include distinctive facial features, growth abnormalities, joint hypermobility, hypotonia, and developmental delay. Newly identified features included feeding difficulties, sleep problems, visual problems, genitourinary abnormality, and other anatomical variations. Here we report 14 new individuals, including novel TAB2 variants, in order to expand the emerging syndromic clinical phenotype and provide further genotype–phenotype correlation.

Publication metadata

Author(s): Woods E, Marson I, Coci E, Spiller M, Kumar A, Brady A, Homfray T, Fisher R, Turnpenny P, Rankin J, Kanani F, Platzer K, Ververi A, Emmanouilidou E, Bourboun N, Giannakoulas G, Balasubramanian M

Publication type: Article

Publication status: Published

Journal: American Journal of Medical Genetics, Part A

Year: 2022

Volume: 188

Issue: 11

Pages: 3331-3342

Print publication date: 01/11/2022

Online publication date: 16/08/2022

Acceptance date: 19/06/2022

Date deposited: 06/10/2022

ISSN (print): 1552-4825

ISSN (electronic): 1552-4833

Publisher: John Wiley and Sons Inc.


DOI: 10.1002/ajmg.a.62949

PubMed id: 35971781


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Funder referenceFunder name
Wellcome Trust