Lookup NU author(s): Professor Sir John Burn
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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.
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
Journal: European Journal of Medical Genetics
Online publication date: 30/11/2016
Acceptance date: 28/11/2016
Print publication date: 01/02/2017
ISSN (print): 1769-7212
ISSN (electronic): 1878-0849
PubMed id: 27915094
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