Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management

Abstract

BackgroundRubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation. However, no standard diagnostic criteria are available for RSTS. In this review, we summarized the clinical features and genetic basis of RSTS and highlighted areas for future studies on an appropriate diagnostic protocol and follow-up care for RSTS.DiscussionRSTS is primarily characterized by delayed growth in height and weight, microcephaly, dysmorphic facial features, and broad thumbs and big toe. Over 90% RSTS individuals with disabilities survive to adulthood, but healthcare for these patients is particularly complex, time-consuming, and costly. In addition, no standard diagnostic criteria and follow-up care guidelines are available for RSTS. It has been shown that mutations in the genes encoding the cyclic-AMP-regulated enhancer binding protein (CREBBP) and the E1A-binding protein p300 (EP300) contributed to the development of RSTS. Therefore, genetic tests are useful for the diagnosis of RSTS, although most RSTS cases are currently diagnosed based on clinical features.SummaryThe clinical features of RSTS have been extensively studied, which significantly contributes to the diagnosis of this extremely rare syndrome. However, the pathogenesis and genotype-phenotype associations of RSTS are largely unknown. Therefore, multicenter studies and international cooperation are highlighted for better understanding of this disease, establishing standard diagnostic criteria, and providing professional management and follow-up care of RSTS.

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“…5 Cancer of neural and developmental origin( neuroblastoma, medulloblastoma, oligodendroglioma, meningioma, rhabdomyosarcoma, seminoma, choristoma). 10 Nonspecific changes in EEG are seen in 57-66% cases and seizure seen in 25% cases. 10 Iris / retinal/ optic nerve coloboma are more common ocular manifestations followed by glaucoma.…”

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“…The three considered genetic disorders are rare diseases with a prevalence of 1:125,000 for RSTS, 1:40,000 for SS, and 1:13,700 for BWS. [6][7][8] RSTS and SS are associated with psychomotor delay and intellectual disability, whereas psychomotor and intellectual development is normal in BWS. All three conditions are associated with an increased risk of cancer.…”

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“…RSTS is inherited in an autosomal dominant manner, but mutations usually occur de novo. The incidence is approximately one in 100,000 to 125,000 (68,69). RSTS is caused by germline mutations of CREBBP (40%-50%; ref.…”