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

Lookup NU author(s): Professor Sir John BurnORCiD


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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 novo loss of function mutations in CTNNB1. Here we report detailed phenotypic information on ten of these. We confirm the features that have been previously described and further delineate the skin and hair findings, including fair skin and fair and sparse hair with unusual patterning.

Publication metadata

Author(s): Kharbanda M, Pilz DT, Tomkins S, Chandler K, Saggar A, Fryer A, McKay A, Louro P, Smith JC, Burn J, Kini U, DeBurca A, FitzPatrick DR, Kinning E

Publication type: Article

Publication status: Published

Journal: European Journal of Medical Genetics

Year: 2016

Volume: 60

Issue: 2

Pages: 130-135

Print publication date: 01/02/2017

Online publication date: 30/11/2016

Acceptance date: 28/11/2016

ISSN (print): 1769-7212

ISSN (electronic): 1878-0849

Publisher: Elsevier


DOI: 10.1016/j.ejmg.2016.11.008

PubMed id: 27915094


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