Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP.
CREB-binding protein
Rubinstein-Taybi syndrome
exon 30
new phenotype
whole exome sequencing
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
04 2019
04 2019
Historique:
received:
23
11
2018
revised:
28
12
2018
accepted:
01
01
2019
pubmed:
10
2
2019
medline:
23
4
2020
entrez:
10
2
2019
Statut:
ppublish
Résumé
We report here a novel de novo missense variant affecting the last amino acid of exon 30 of CREBBP [NM_004380, c.5170G>A; p.(Glu1724Lys)] in a 17-year-old boy presenting mild intellectual disability and dysmorphisms but not resembling the phenotype of classical Rubinstein-Taybi syndrome. The patient showed a marked overweight from early infancy on and had cortical heterotopias. Recently, 22 individuals have been reported with missense mutations in the last part of exon 30 and the beginning of exon 31 of CREBBP, showing this new phenotype. This additional case further delineates the genotype-phenotype correlations within the molecular and phenotypic spectrum of variants in CREBBP and EP300.
Identifiants
pubmed: 30737887
doi: 10.1002/ajmg.a.61052
doi:
Substances chimiques
CREB-Binding Protein
EC 2.3.1.48
CREBBP protein, human
EC 2.3.1.48
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
634-638Subventions
Organisme : Sardinian Autonomous Region
ID : CRP-59829
Pays : International
Informations de copyright
© 2019 Wiley Periodicals, Inc.