Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.

Robert Smigiel, Anna Biernacka, Mateusz Biela, Victor Murcia-Pienkowski, Elzbieta Szmida, Piotr Gasperowicz, Joanna Kosinska, Grazyna Kostrzewa, Agnieszka Anna Koppolu, Anna Walczak, Dominik Wawrzuta, Malgorzata Rydzanicz, Malgorzata Sasiadek, Rafal Ploski

Journal: Journal of human genetics 2018;63(4):517-520

PMID: 29410511

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Abstract

Overgrowth, macrocephaly, accelerated osseous maturation, variable intellectual disability, and characteristic facial features are the main symptoms of Weaver syndrome, a rare condition caused by mutations in EZH2 gene. Recently, in four patients with Weaver-like symptoms without mutations in EZH2 gene, pathogenic variants in EED were described. We present another patient clinically diagnosed with Weaver syndrome in whom WES revealed an EED de novo mutation affecting two neighboring aminoacids, NM_003797.3:c.917_919delinsCGG/p.(Arg306_Asn307delinsThrAsp) located in one allele (in cis). Our observation, together with previous reports suggests that EED gene testing is warranted in patients with the overgrowth syndrome features and suspicion of Weaver syndrome with normal results of EZH2 gene sequencing.

Address: Department of Paediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland. [email protected].; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.; Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland.; Department of Paediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland.; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.; Department of Forensic Medicine, Warsaw Medical University, Warsaw, Poland.; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland. [email protected].

DOI: 10.1038/s10038-017-0391-x

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MeSH Terms: Abnormalities, Multiple, Alleles, Amino Acid Substitution, Congenital Hypothyroidism, Craniofacial Abnormalities, DNA Mutational Analysis, Facies, Hand Deformities, Congenital, Humans, Infant, Male, Mutation, Phenotype, Polycomb Repressive Complex 2, Exome Sequencing