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Article

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.

American journal of medical genetics. Part A - 1 Aug 2021

Dias Caroline, Pfundt Rolph, Kleefstra Tjitske, Shuurs-Hoeijmakers Janneke, Boon Elles M J, van Hagen Johanna M, Zwijnenburg Petra, Weiss Marjan M, Keren Boris, Mignot Cyril, Isapof Arnaud, Weiss Karin, Hershkovitz Tova, Iascone Maria, Maitz Silvia, Feichtinger René G, Kotzot Dieter, Mayr Johannes A, Ben-Omran Tawfeg, Mahmoud Laila, Pais Lynn S, Walsh Christopher A, Shashi Vandana, Sullivan Jennifer A, Stong Nicholas, Lecoquierre Francois, Guerrot Anne-Marie, Charollais Aude, Rodan Lance H

Abstract excerpt

TCF7L2 encodes transcription factor 7-like 2 (OMIM 602228), a key mediator of the evolutionary conserved canonical Wnt signaling pathway. Although several large-scale sequencing studies have implicated TCF7L2 in intellectual disability and autism, both the genetic mechanism and clinical phenotype have remained incompletely characterized. We present here a comprehensive genetic and phenotypic description of 11...

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Child
Child, Preschool
Genetic Association Studies
Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Neurodevelopmental Disorders

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Transcription Factor 7-Like 2 Protein

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Identifiers

PMID: 34003604
DOI: 10.1002/ajmg.a.62254
PMCID: PMC8815108

Genes

TCF7L2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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