Ultra-Rare Syndromes: The Example of Rubinstein–Taybi Syndrome

Spena, Silvia; Gervasini, Cristina; Milani, Donatella

doi:10.1055/s-0035-1564571

Cited by 47 publications

(66 citation statements)

References 91 publications

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“…Broad thumb and broad first toes are present in almost all cases 2 and are radially deviated in about one-third of the cases. Cryptorchidism affects 78 to 100% of the male infants 4 and talon cusps are frequently found. found a relation with repetitive behavior and Galéra et al 8 described short attention span, poor coordination, and motor stereotypies in RSTS.…”

Section: Discussionmentioning

confidence: 99%

“…Although most cases are sporadic, somatic mosaicism has been noted in the rare familial RSTS described in literature. 4 The recurrence risk has been estimated to be about 0.5 to 1%.…”

Section: Discussionmentioning

confidence: 99%

“…However, cytogenetic or molecular abnormalities like a microdeletion of chromosome 16p13.3, or mutation in either the cyclic adenosine monophosphate response element-binding protein (CREB)-binding protein (CBP) or E1A-binding protein (EP300) can be detected in 55 to 78% of RSTS patients. 3,4 However, a negative result does not exclude the diagnosis. Database search is a useful supportive tool as well.…”

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confidence: 99%

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An Attempt to rehabilitate a Case of Rubinstein–Taybi Syndrome: A Rare Disorder

Sengupta¹,

Equebal²,

Biswas³

et al. 2017

Indian Journal of Physical Medicine and Rehabilitation

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Rubinstein-Taybi syndrome (RSTS) is a genetically heterogeneous, rare, neurodevelopmental condition with the usual stigmata of facial dysmorphism, broad thumb and hallux, multisystem involvement, and developmental delay, which are themselves clinically diagnostic in the absence of standard criteria. Amidst all these physical features, the sensory, cognitive, behavioral, intellectual, and sometimes autistic features of the condition often escape attention. This case illustrates that the management of all these different aspects remains an integral part of rehabilitation.

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Section: Discussionmentioning

confidence: 99%

“…Although most cases are sporadic, somatic mosaicism has been noted in the rare familial RSTS described in literature. 4 The recurrence risk has been estimated to be about 0.5 to 1%.…”

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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An Attempt to rehabilitate a Case of Rubinstein–Taybi Syndrome: A Rare Disorder

Sengupta¹,

Equebal²,

Biswas³

et al. 2017

Indian Journal of Physical Medicine and Rehabilitation

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“…Rubinstein-Taybi syndrome (RSTS) is characterized by facial features, including down-slanting palpebral fissures, low columella, high palate, grimacing smile, and talon cusps, broad thumbs and great toes, short stature, and intellectual disability (66,67). RSTS is inherited in an autosomal dominant manner, but mutations usually occur de novo.…”

Section: Rubinstein-taybi Syndromementioning

confidence: 99%

Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk

Villani

Greer

Kalish

et al. 2017

Clinical Cancer Research

126

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In October 2016, the American Association for Cancer Research held a meeting of international childhood cancer predisposition syndrome experts to evaluate the current knowledge of these syndromes and to propose consensus surveillance recommendations. Herein, we summarize clinical and genetic aspects of RASopathies and Sotos, Weaver, Rubinstein-Taybi, Schinzel-Giedion, and NKX2-1 syndromes as well as specific metabolic disorders known to be associated with increased childhood cancer risk. In addition, the expert panel reviewed whether sufficient data exist to make a recommendation that all patients with these disorders be offered cancer surveillance. For all syndromes, the panel recommends increased awareness and prompt assessment of clinical symptoms. Patients with Costello syndrome have the highest cancer risk, and cancer surveillance should be considered. Regular physical examinations and complete blood counts can be performed in infants with Noonan syndrome if specific PTPN11 or KRAS mutations are present, and in patients with CBL syndrome. Also, the high brain tumor risk in patients with L-2 hydroxyglutaric aciduria may warrant regular screening with brain MRIs. For most syndromes, surveillance may be needed for nonmalignant health problems. Clin Cancer Res; 23(12); e83–e90. ©2017 AACR. See all articles in the online-only CCR Pediatric Oncology Series.

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“…Despite the hallmarks of RSTS, striking facial feature, broad thumbs and hallux, the diagnosis of RSTS is sometimes challenging because of the high variability in phenotype and genotype (Spena, Gervasini, & Milani, ). Clinical exome sequencing (CES) is a reliable and rapid diagnostic tool for suspected genetic disorders, and has been powerfully used in medical practices (Lee et al, ).…”

Section: Introductionmentioning

confidence: 99%

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly

Qian

et al. 2019

Molec Gen & Gen Med

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BackgroundRubinstein–Taybi syndrome (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability. RSTS is mainly caused by de novo variants in epigenetics‐associated gene, CREBBP. To date, there is no cohort study of CREBBP variants in Chinese RSTS patients.MethodsIn this study, 18 kids who meet the main criteria of RSTS were recruited. Molecular diagnoses were analyzed by clinical exome sequencing (CES), and the medical records were reviewed retrospectively.ResultsNineteen novel CREBBP variants in 18 RSTS patients were identified, including two missense, four nonsense, five frameshift, one splicing variants, and seven intragenic deletions. A higher incidence (37%, 7/19) of intragenic deletions was detected. One patient who had two de novo missense variants c.[4112T > A, 4118C > A] in cis and one patient who had a de novo frameshift variant c.5837delC in homozygous state (90%) were found in this study. Compared with the previously reported populations, seven clinical features were different, including the higher incidence of polydactyly, syndactyly, microcephaly, and micrognathia, and the lower incidence of angulated thumbs, autistic behavior, and epilepsy. One patient with obesity in the first year was diagnosed with CREBBP gene exon 2 deletion, was initially suspected of Prader–Willi syndrome.ConclusionWe reported the genetic and clinical information of 18 RSTS patients from Chinese population with novel CREBBP variants. This study provides a new insight into RSTS and illustrates the value of applying CES which increases the diagnostic yields and enhances the clinical care of RSTS patients.

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Ultra-Rare Syndromes: The Example of Rubinstein–Taybi Syndrome

Cited by 47 publications

References 91 publications

An Attempt to rehabilitate a Case of Rubinstein–Taybi Syndrome: A Rare Disorder

An Attempt to rehabilitate a Case of Rubinstein–Taybi Syndrome: A Rare Disorder

Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly

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