TY - JOUR
T1 - Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP
AU - Angius, Andrea
AU - Uva, Paolo
AU - Oppo, Manuela
AU - Persico, Ivana
AU - Onano, Stefano
AU - Olla, Stefania
AU - Pes, Valentina
AU - Perria, Chiara
AU - Cuccuru, Gianmauro
AU - Atzeni, Rossano
AU - Serra, Gigliola
AU - Cucca, Francesco
AU - Sotgiu, Stefano
AU - Hennekam, Raoul C.
AU - Crisponi, Laura
PY - 2019/4/1
Y1 - 2019/4/1
N2 - 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.
AB - 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.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85061256965&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/30737887
U2 - 10.1002/ajmg.a.61052
DO - 10.1002/ajmg.a.61052
M3 - Article
C2 - 30737887
VL - 179
SP - 634
EP - 638
JO - American Journal of Medical Genetics Part A
JF - American Journal of Medical Genetics Part A
SN - 1552-4825
IS - 4
ER -