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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.
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
Pages: Epub ahead of print
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.
URL: https://doi.org/10.1002/ajmg.a.62949
DOI: 10.1002/ajmg.a.62949
PubMed id: 35971781
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