Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Gene: EED

Comment on mode of inheritance: Monoallelic MOI supported by OMIM and DD-G2P.

Created: 3 Oct 2017, 11:42 a.m.

Green List (high evidence)

Associated with phenotype in OMIM and as a probable G2P. At least 4 variants reported in 4 unrelated cases

Created: 5 Sep 2017, 12:40 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cohen-Gibson syndrome 617561

Publications

• 25787343
• 27193220
• 27868325
• 28229514

Green List (high evidence)

Review and Green rating from Kate Tatton-Brown April 2017. Paper in press with AJHG. Also 28229514, 25787343, 27193220, 27868325. We wil be reporting variants in clinical practice soon

Created: 31 May 2019, 9:08 a.m.

Recently Human overgrowth syndrome-causing mutations in the gene EED have been identified.
From abstract (unpublished) Tatton-Brown et al (2017)(http://conf.hinxton.wellcome.ac.uk/advancedcourses/GRD2017Abstactbook.pdf) Human overgrowth syndromes (OGID) are a nebulous group of conditions with height and/or head circumference ≥ 2SD above the mean, together with additional phenotypic abnormalities, the commonest of which is intellectual disability. To explore the genetic architecture of human overgrowth syndromes and growth control, we have performed experimental and bioinformatic analyses of 710 individuals with OGID, identifying patients with OGID-causing mutations in genes including NSD1 (240 cases), EZH2 (34 cases), DNMT3A (18 cases), CHD8 (12 cases) and EED (two cases) and HIST1H1E (five cases). Other genes with OGID-causing mutations, identified in the current study, include NFIX (14 cases), GPC3 (two cases) and BRWD3 (seven cases) in addition to the genes encoding components of the PI3K/AKT pathway (PTEN (16 cases); PPP2R5D (three cases); AKT and PIK3CA (one case each).

Created: 31 Mar 2017, 5:58 p.m.

Mode of inheritance
Unknown