Rubinstein-taybi syndrome in a mother and son

Hennekam, Raoul C. M.; Lommen, E. J. P.; Strengers, Jan L.M.; Spijker, H. G. Van; Jansen-Kokx, T. M. G.

doi:10.1007/bf00595907

Cited by 41 publications

(26 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Familial RSTS is extremely rare, in this regards, between 1000 and 2000 cases of RSTS have been reported but only 11 cases of familial RSTS have been described [3–6, 8, 11], and are most likely linked to somatic mosaicism. Moreover, in all the cases in which the molecular cause was determined, it was associated with the CREBBP gene.…”

Section: Resultsmentioning

confidence: 99%

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant

López¹,

Seidel

Santibáñez³

et al. 2016

BMC Med Genet

View full text Add to dashboard Cite

BackgroundRubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes in 50–60% and 5–8% of cases, respectively. The majority of cases are de novo heterozygous mutations.Case presentationHere we describe a familial RSTS case, associated with a novel EP300 mutation. The proband was a 9 years old female, with mild learning difficulties. Her mother, who also had learning difficulties, was found to have short and broad thumbs. MLPA and panel-based NGS of CREBBP and EP300 were performed. A novel heterozygous frameshift mutation in exon 31 of the EP300 gene (c.7222_7223del; p.(Gln2408Glufs*39)) was found in both.ConclusionsThis case represents the first case of inherited EP300-RSTS. The location of the frameshift deletion not affecting HAT domain and PHD finger, could explain the mild phenotype and the well-preserved intelligence. These patients are mildly affected, and this case highlights the possible missed diagnosis. We would recommend molecular testing of apparently healthy parents, and in the case of inherited mutations, of all adult first degree relatives at risk.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-016-0361-8) contains supplementary material, which is available to authorized users.

show abstract

Section: Resultsmentioning

confidence: 99%

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant

López¹,

Seidel

Santibáñez³

et al. 2016

BMC Med Genet

View full text Add to dashboard Cite

show abstract

“…The syndrome is autosomal dominant but reports of transmission are rare, the overwhelming majority of cases being caused by de novo mutations [12,13]. …”

Section: Introductionmentioning

confidence: 99%

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia

et al. 2013

View full text Add to dashboard Cite

BackgroundRubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder (prevalence 1:125,000) characterised by broad thumbs and halluces, facial dysmorphism, psychomotor development delay, skeletal defects, abnormalities in the posterior fossa and short stature. The known genetic causes are point mutations or deletions of the cAMP-response element binding protein-BP (CREBBP) (50-60% of the cases) and of the homologous gene E1A-binding protein (EP300) (5%).Case presentationWe describe, for the first time in literature, a RTS Caucasian girl, 14-year-old, with growth hormone (GH) deficiency, pituitary hypoplasia, Arnold Chiari malformation type 1, double syringomyelic cavity and a novel CREBBP mutation (c.3546insCC).ConclusionWe hypothesize that CREBBP mutation we have identified in this patient could be responsible also for RTS atypical features as GH deficiency and pituitary hypoplasia.

show abstract

“…Here we present the clinical history and physical and radiographic data of 45 patients. Other parts of the study will be described elsewhere [Hennekam et al, 1989;Hennekam and Van Doorne, this issue;Hennekam et al, this issue;Stevens et al, this issue].…”

Section: Introductionmentioning

confidence: 99%

Rubinstein-Taybi syndrome in the Netherlands

Hennekam¹,

Boogaard²,

Sibbles³

et al. 2005

Am. J. Med. Genet.

View full text Add to dashboard Cite

This study reports the physical and radiographic characteristics of 45 patients with Rubinstein-Taybi syndrome living in The Netherlands. All had broad halluces, but only 39 patients had broad thumbs. Microcephaly was present in 35% of patients. In addition to the well-known characteristics, persistent fetal pads, a shawl scrotum, and a high frequency of fractures were found in several patients. Morbidity was mainly determined by the mental handicap, constipation, and recurrent upper respiratory infections, probably due to abnormal anatomy in the craniofacial region. Easy collapsible laryngeal walls may cause problems in sleep and anaesthesia.

show abstract

Rubinstein-taybi syndrome in a mother and son

Cited by 41 publications

References 17 publications

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia

Rubinstein-Taybi syndrome in the Netherlands

Contact Info

Product

Resources

About