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Clinical features associated with
de novo loss of function mutations in ten individuals
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Professor Sir John Burn
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
European Journal of Medical Genetics
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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.
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