Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 60, Issue 2, Pages 130-135Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2016.11.008
Keywords
CTNNB1; Intellectual disability; Microcephaly
Categories
Funding
- Wellcome Trust
- Department of Health
- Wellcome Trust Sanger Institute [WT098051]
- National Institute for Health Research, through the Comprehensive Clinical Research Network
- [HICF-1009-003]
- MRC [MC_PC_U127561093] Funding Source: UKRI
- Cancer Research UK [15934] Funding Source: researchfish
- Medical Research Council [MC_PC_U127561093] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0515-10035] Funding Source: researchfish
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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. (C) 2016 Elsevier Masson SAS. All rights reserved.
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