1. SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression
- Author
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Krzysztof Szczałuba, Justyna Kot, Rafał Płoski, Anna Walczak, Piotr Stawiński, Bożena Werner, Monika Brzezinska, and Małgorzata Rydzanicz
- Subjects
0301 basic medicine ,Adult ,Male ,Genotype ,Inheritance Patterns ,Bioinformatics ,Loss of function mutation ,Variable Expression ,03 medical and health sciences ,Intellectual Disability ,Intellectual disability ,Genetics ,Medicine ,Humans ,Exome ,Gene ,Genetics (clinical) ,Exome sequencing ,Alleles ,Genetic Association Studies ,business.industry ,Siblings ,Facies ,High-Throughput Nucleotide Sequencing ,Methyltransferases ,Syndrome ,medicine.disease ,Phenotype ,030104 developmental biology ,Child, Preschool ,Mutation (genetic algorithm) ,Mutation ,Variable phenotypic expression ,business ,Genome-Wide Association Study - Abstract
Loss-of-function de novo mutations in the SETD5 gene, encoding a putative methyltransferase, are an important cause of moderate/severe intellectual disability as evidenced by the results of sequencing large patient cohorts. We present the first familial case of a SETD5 mutation contributing to a phenotype of congenital heart defects and dysmorphic features, with variable expression, in two siblings and their father. Interestingly, the father demonstrated only mild intellectual impairment. Family based exome sequencing combined to careful parental phenotyping may reveal a more complex clinical picture in newly recognized syndromes. © 2016 Wiley Periodicals, Inc.
- Published
- 2015