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Article

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

European journal of medical genetics - 1 Feb 2017

Kharbanda Mira, Pilz Daniela T, Tomkins Susan, Chandler Kate, Saggar Anand, Fryer Alan, McKay Victoria, Louro Pedro, Smith Jill Clayton, Burn John, Kini Usha, De Burca Anna, FitzPatrick David R, Kinning Esther

Abstract excerpt

Loss of function mutations in CTNNB1 have been reported in individuals with intellectual disability [MIM #615075] associated with peripheral spasticity, microcephaly and central hypotonia, suggesting a recognisable phenotype associated with haploinsufficiency for this gene. Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified eleven further individuals with de...

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Identifiers

PMID: 27915094
DOI: 10.1016/j.ejmg.2016.11.008
PMCID: PMC6070129

Genes

CTNNB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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