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

ABSTRACT: 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.

SUBMITTER: Kharbanda M 

PROVIDER: S-EPMC6070129 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature

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

Kharbanda Mira M   Pilz Daniela T DT   Tomkins Susan S   Chandler Kate K   Saggar Anand A   Fryer Alan A   McKay Victoria V   Louro Pedro P   Smith Jill Clayton JC   Burn John J   Kini Usha U   De Burca Anna A   FitzPatrick David R DR   Kinning Esther E  

European journal of medical genetics 20161130 2

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 informa  ...[more]

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