Rubinstein–Taybi syndrome in diverse populations

Abstract

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations. In this study, individuals from diverse populations with RSTS were assessed by clinical examination and facial analysis technology. Clinical data of 38 individuals from 14 different countries were analyzed. The median age was

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

“…The typical facial aspect is often obvious in adults. Less frequently, the facial phenotype may include a wide anterior fontanel or delayed closure, frontal bumps, low implantation hairline, deviation of the nasal septum, thin upper lip, small mouth, thin upper helix, or pits in the posterior part of the helix [ 5 , 7 , 9 , 17 , 21 , 30 , 31 , 32 , 33 , 34 , 35 , 36 ] ( Figure 1 A).…”

“…This thumb abnormality is not constant but is found in between 69% to 97% of cases depending on the studies and the gene involved. The radial deviation of the last phalanx of the thumb is also very suggestive but found in a very heterogeneous way (2 to 88% of cases) [ 5 , 7 , 10 , 17 , 30 , 37 , 38 ]. Other hand anomalies include, with a decreasing frequency, large distal phalanges of the other fingers, clinodactyly of the fifth fingers, persistent palmar pads of the distal phalanges, a single transverse palmar crease uni or bilateral, camptodactyly, and ulnar deviation of the second or third fingers [ 7 ].…”

“…Feet features include an almost constant (between 87 and 100% of cases) very wide hallux, in 11% of cases a duplication of the hallux can be seen on the radiographs, and angulation of the last phalanx in varus (7%) or in valgus (17%) is described [ 5 , 7 , 17 , 30 , 37 ]. The other anomalies observed are flat feet, overlapping toes in half of the cases, widening between the first two toes, and cutaneous syndactyly II-III of the toes.…”

“…The other anomalies observed are flat feet, overlapping toes in half of the cases, widening between the first two toes, and cutaneous syndactyly II-III of the toes. More rarely, clubfoot, post-axial polydactyly, or agenesis of the distal phalanx of the hallux have also been reported [ 5 , 7 , 10 , 17 , 30 , 37 , 38 , 39 , 40 , 41 ].…”

Evolving technologies in medical genetics and genomics

“…These new technologies take many forms—they are developed and utilized at the bench, behind the computer screen, and through now‐ubiquitous smartphones. Certain major examples, such as exome and genome sequencing—including very rapid versions of these tests—and the use of artificial intelligence, are so commonplace in some settings that they are already almost taken for granted, though they continue to be refined and applied to new questions (Bamborschke et al, 2020; Quaio et al, 2020; Tekendo‐Ngongang et al, 2020).…”