Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

BMC Medical Genetics

Table 2 Comparison of typical features in EP300-patients found in literature

Feature	%
Feature	This work	Fergelot et al. 2016	Hamilton et al. 2016
Female/male	37.5/62.5	35/65	66/44
ID:
Mild	37.5	62	56
Moderate	50	31	44
Severe	12.5	7	0
Broad thumbs	87.5	69	89
Angulated thumbs	25	2	ND
Microcephaly	100	87	67
Psychomotor delay	28.5	ND	89
Language delay	28.5	ND	100
Autism/Autistic behavior	28.5	25	33
Downslanting palpebral fissures	83	56	0
Columella below alae nasi	100	92	78

It should be noted that our work describes 8 cases, the paper by Fergelot et al. 52, and Hamilton et al. described 9 cases, 5 of them with no previous diagnosis of RSTS

ISSN: 1471-2350