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Am J Med Genet A 2022 Jun 21. Epub 2022 Jun 21.

School of Psychology, College of Health and Life Sciences, Aston University, Birmingham, UK.

Rubinstein-Taybi syndrome (RTS) is a rare genetic syndrome associated with growth delay, phenotypic facial characteristics, microcephaly, developmental delay, broad thumbs, and big toes. Most research on RTS has focused on the genotype and physical phenotype; however, several studies have described behavioral, cognitive, social, and emotional characteristics, elucidating the behavioral phenotype of RTS. The reporting of this review was informed by PRISMA guidelines. Read More

Case Rep Genet 2022 21;2022:3388879. Epub 2022 May 21.

Department of Pediatrics, University of Santo Tomas Hospital, España Boulevard, Manila, Philippines.

Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder characterized by dysmorphic facial features, broad thumbs and halluces, intellectual disability, and postnatal growth retardation. This report presents a male infant with microcephaly and characteristic facial features, namely, low anterior hairline, hirsutism, thin upper lip and micrognathia, broad thumbs and first toes, cryptorchidism, recurrent pneumonia, developmental delay, and growth retardation. Genetic testing showed a novel pathogenic variant in the gene which is consistent with the clinical diagnosis of RSTS. Read More

Children (Basel) 2022 May 22;9(5). Epub 2022 May 22.

Department of Pediatrics, Carol Davila University of Medicine and Pharmacy, "Grigore Alexandrescu" Emergency Hospital for Children, 011743 Bucharest, Romania.

Background: Menke-Hennekam syndrome (MHS) is a rare and recently described syndrome consecutive to the variants in exon 30 or 31 in (CREB-binding protein gene). The CREB-binding protein ( and genes are two commonly expressed genes whose products possess acetyltransferase activity for histones and various other proteins. Mutations that affect these two genes are known to cause Rubinstein-Taybi syndrome (RTS); however, with the application of whole exome sequencing (WES) there were reports of variants that affect specific regions of exon 30 or 31 of these two genes but without the specific phenotype of RTS. Read More

Res Dev Disabil 2022 Jul 22;126:104235. Epub 2022 Apr 22.

Child and Adolescent Neuropsychiatric Service (UONPIA), Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Via Pace 9, Milan, Italy.

Background And Aim: There is mounting evidence highlighting that Cornelia de Lange Syndrome (CdLS) and Rubinstein-Taybi Syndrome's (RSTS) behavioral phenotypes are not stable over individual developmental trajectories and that several psychiatric disorders might arise with age. Our study aims to examine the specific hallmarks of psychopathology and behavioral phenotypes in four different age ranges: infancy and toddlerhood, early childhood, middle childhood, and adolescence, in both genetic syndromes.

Method: The sample included 44 patients with CdLS (48% boys, age = 6. Read More

Front Genet 2022 8;13:848879. Epub 2022 Apr 8.

Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.

Rubinstein-Taybi Syndrome (RSTS) is a rare congenital disease with distinctive facial features, broadening of the thumbs and halluces, and developmental delay. RSTS is caused by genetic alterations in and the homologous genes. In this study, we established a genetic diagnostic protocol by integrating multiplex ligation-dependent probe amplification (MLPA) and whole-exome sequencing (WES). Read More

Eur J Hum Genet 2022 Apr 6. Epub 2022 Apr 6.

Department of Paediatrics, Amsterdam UMC-Location AMC, Amsterdam, The Netherlands.

The existing knowledge about morbidity in adults with Rubinstein-Taybi syndrome (RTS) is limited and detailed data on their natural history and response to management are needed for optimal care in later life. We formed an international, multidisciplinary working group that developed an accessible questionnaire including key issues about adults with RTS and disseminated this to all known RTS support groups via social media. We report the observations from a cohort of 87 adult individuals of whom 43 had a molecularly confirmed diagnosis. Read More

Genes (Basel) 2022 03 15;13(3). Epub 2022 Mar 15.

Department of Health Sciences, Università Degli Studi di Milano, 20142 Milan, Italy.

(Lysine methyltransferase 2A) is a member of the epigenetic machinery, encoding a lysine methyltransferase responsible for the transcriptional activation through lysine 4 of histone 3 (H3K4) methylation. has a crucial role in gene expression, thus it is associated to pathological conditions when found mutated. germinal mutations are associated to Wiedemann-Steiner syndrome and also in patients with initial clinical diagnosis of several other chromatinopathies (i. Read More

Pediatr Hematol Oncol 2022 Mar 11:1-8. Epub 2022 Mar 11.

Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.

Rubinstein-Taybi syndrome (RSTS) is a rare disorder characterized by developmental delay, short stature, dysmorphic facies and skeletal abnormalities. RSTS has been linked to a variety of malignant and benign tumors, but the frequency and characteristics of RSTS-related neoplasms remain unclear. We describe a unique case of near haploid B-cell lymphoblastic leukemia (B-ALL) in a 6-year-old girl with RSTS who harbors a likely pathogenic variant in . Read More

Am J Med Genet A 2022 Jul 9;188(7):2129-2134. Epub 2022 Mar 9.

Pediatrics Clinic and A. Nocivelli Institute for Molecular Medicine A, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili, Brescia, Italy.

The Rubinstein-Taybi syndrome (RSTS) is a rare developmental disorder characterized by craniofacial dysmorphisms, broad thumbs and toes, intellectual disability, growth deficiency, and recurrent infections. Mutations in the cyclic adenosine monophosphate response element-binding protein (CREB)-binding protein (CREBBP) or in the E1A-associated protein p300 (EP300) genes have been demonstrated in 55% (RSTS1) and up to 8% of the patients (RSTS2), respectively. Dysfunction of immune response has been reported in a subgroup of individuals with RSTS. Read More

Res Dev Disabil 2022 Mar 8;122:104166. Epub 2022 Jan 8.

School of Psychology, University of Birmingham, B15 2TT, United Kingdom.

Background: Individuals with genetic syndromes show unique profiles of repetitive behaviours and restricted interests (RRBs). The executive dysfunction account of RRBs suggests that in autistic (AUT) individuals executive function impairments underpin RRBs, but not communication and social interaction autistic characteristics.

Aims: To 1) describe profiles of behavioural manifestations of executive function (EF behaviours) and 2) explore the relationship between EF behaviours and autistic traits across individuals with Cornelia de Lange (CdLS), fragile X (FXS) and Rubinstein-Taybi syndromes (RTS), and AUT individuals. Read More

Clin Genet 2022 03 4;101(3):335-345. Epub 2022 Jan 4.

Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.

Rubinstein-Taybi syndrome (RSTS) is characterized by dysmorphic facial features, broad thumbs, and intellectual disability. CREB-binding protein (CREBBP) or E1A-binding protein P300 (EP300) are causative genes. To elucidate the underlying genetic and genomic architecture related to the RSTS phenotype, we performed comprehensive genetic analysis targeting CREBBP and/or EP300 in 22 clinically diagnosed patients. Read More

J Eur Acad Dermatol Venereol 2022 Apr 31;36(4):536-546. Epub 2021 Dec 31.

Department of Dermatology, University of California Irvine, Irvine, CA, USA.

Long eyelashes have been popularized and many commercially available products exist to achieve eyelash growth as a desired cosmetic effect. Eyelash trichomegaly may be induced by medications, procedures, or be related to medical conditions; however, the exact mechanisms that govern eyelash growth are not well elucidated. This study aims to identify and summarize aetiologies associated with eyelash trichomegaly. Read More

Pan Afr Med J 2021 8;40:85. Epub 2021 Oct 8.

Department of Neuro-Physiotherapy, Ravi Nair Physiotherapy College, Datta Meghe Institute of Medical Sciences, Sawangi, Meghe, Wardha, Maharashtra, India.

Rubinstein-Taybi syndrome (RSTS) is a chromosomal segment 16p13.3 microdeletion syndrome and is characterized by CREBBP gene mutations, delay in the development of height and weight, distinctive facial features, broad and sometimes angulated thumbs and halluces, short stature, and intellectual impairment that is mild to extreme. Current literature emphasizes mainly medical, dental, and psychiatric issues in RSTS and there is no retrievable literature on physiotherapy and its role in improving motor function in RSTS. Read More

Genet Med 2022 01 30;24(1):51-60. Epub 2021 Nov 30.

Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via S. Pansini 5, 80131 Naples, Italy. Electronic address:

Purpose: Chromatinopathies include more than 50 disorders caused by disease-causing variants of various components of chromatin structure and function. Many of these disorders exhibit unique genome-wide DNA methylation profiles, known as episignatures. In this study, the methylation profile of a large cohort of individuals with chromatinopathies was analyzed for episignature detection. Read More

Hum Mol Genet 2022 05;31(10):1599-1609

Institute for Genetic and Biomedical Research (IRGB), National Research Council (CNR), 56124 Pisa, Italy.

Cornelia de Lange syndrome (CdLS) is a rare multiorgan developmental disorder caused by pathogenic variants in cohesin genes. It is a genetically and clinically heterogeneous dominant (both autosomal and X-linked) rare disease. Increasing experimental evidence indicates that CdLS is caused by a combination of factors, such as gene expression dysregulation, accumulation of cellular damage and cellular aging, which collectively contribute to the CdLS phenotype. Read More

Arch Argent Pediatr 2021 12;119(6):e636-e638

Servicio de Dermatología del Complejo Hospitalario Universitario de Pontevedra, Pontevedra, España.

Ulerythema ophryogenes is a benign and rare skin disorder commonly presenting in childhood. It is characterized by erythematous and keratotic follicular papules located on the side of the eyebrows, and which over time tends to evolve into scarred alopecia. This entity may appear as an isolated clinical manifestation or associated with several congenital syndromes (18p-, Cornelia de Lange, Noonan, Rubinstein- Taybi, among others). Read More

Orphanet J Rare Dis 2021 11 22;16(1):488. Epub 2021 Nov 22.

School of Psychology, University of Birmingham, Birmingham, B15 2TT, UK.

Background: Cornelia de Lange (CdLS), Fragile X (FXS) and Rubinstein-Taybi syndromes (RTS) evidence unique profiles of autistic characteristics. To delineate these profiles further, the development of early social cognitive abilities in children with CdLS, FXS and RTS was compared to that observed in typically developing (TD) and autistic (AUT) children.

Methods: Children with CdLS (N = 22), FXS (N = 19) and RTS (N = 18), completed the Early Social Cognition Scale (ESCogS). Read More

Afr Health Sci 2021 Jun;21(2):960-967

Génomique et Epidémiologie Moléculaire des Maladies Génétiques (G2MG), Centre GENOPATH, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Maroc.

Background: Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is a rare autosomal dominant developmental disorder with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical face, broad thumbs and halluces, short stature, and intellectual disability. Facial dysmorphy is characteristic with microcephaly, low frontal hairline, arched eyebrows, long eyelashes, convex profile of nose, narrow palate, and micrognathia. Read More

Front Neurosci 2021 25;15:745684. Epub 2021 Oct 25.

Laboratory of Medical Cytogenetics and Human Molecular Genetics, Biomedical & Technologies Research Center, Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Istituto Auxologico Italiano, Milan, Italy.

Am J Med Genet A 2022 02 15;188(2):446-453. Epub 2021 Oct 15.

Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.

Menke-Hennekam syndrome-1 (MKHK1) is a congenital disorder caused by the heterozygous variants in exon 30 or 31 of CREBBP (CREB binding protein) gene mapped on 16p13.3. It is characterized by psychomotor delay, variable impairment of intellectual disability (ID), feeding difficulty, autistic behavior, hearing impairment, short stature, microcephaly, and facial dysmorphisms. Read More

Mol Cell 2021 11 11;81(22):4663-4676.e8. Epub 2021 Oct 11.

Department of Biochemistry and Molecular Pharmacology, New York University Langone School of Medicine, New York, NY 10016, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA. Electronic address:

The heterogeneous family of complexes comprising Polycomb repressive complex 1 (PRC1) is instrumental for establishing facultative heterochromatin that is repressive to transcription. However, two PRC1 species, ncPRC1.3 and ncPRC1. Read More

Spec Care Dentist 2022 Mar 30;42(2):143-148. Epub 2021 Sep 30.

Special Care Dentistry Center, School of Dentistry, University of São Paulo, São Paulo, Brazil.

Objective: The purpose of this study was to describe a detailed investigation of craniofacial and dental characteristics in a group of Brazilian Rubinstein-Taybi syndrome (RSTS) patients.

Methods And Results: Thirteen RSTS patients treated in a special care dental clinic after 10 years were studied. Panoramic radiographs were obtained from all patients, and cephalometric analysis was performed in eight patients. Read More

Pediatr Pulmonol 2022 01 28;57(1):264-272. Epub 2021 Oct 28.

Division of Pediatric Pulmonology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

Introduction: Rubinstein-Taybi syndrome (RSTS) is a rare genetic syndrome caused primarily by a mutation in the CREBBP gene found on chromosome 16. Patients with RSTS are at greater risk for a variety of medical problems, including upper airway obstruction and aspiration. Childhood interstitial lung disease (ILD) thus far has not been definitively linked to RSTS. Read More

Pediatr Neonatol 2022 03 2;63(2):200-201. Epub 2021 Sep 2.

Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Ube, Japan.

Elife 2021 08 31;10. Epub 2021 Aug 31.

Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, United States.

Although each Mendelian Disorder of the Epigenetic Machinery (MDEM) has a different causative gene, there are shared disease manifestations. We hypothesize that this phenotypic convergence is a consequence of shared epigenetic alterations. To identify such shared alterations, we interrogate chromatin (ATAC-seq) and expression (RNA-seq) states in B cells from three MDEM mouse models (Kabuki [KS] type 1 and 2 and Rubinstein-Taybi type 1 [RT1] syndromes). Read More

Mol Genet Genomic Med 2021 10 24;9(10):e1791. Epub 2021 Aug 24.

Department of Pediatrics, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.

Background: Rubinstein-Taybi syndrome (RSTS) is a rare congenital malformation syndrome with clinical characteristics such as hypertrichosis, high arched eyebrows, large beaked nose, and broad thumbs and halluces. RSTS patients showed intellectual disability and health problems such as short stature, ophthalmologic abnormalities, congenital heart defects, genitourinary defects, and variable types of tumors. Although mutations in CREBBP and EP300 genes are associated with RSTS features, genetic causation is still unknown in 30% of patients. Read More

BMJ Case Rep 2021 Aug 19;14(8). Epub 2021 Aug 19.

Growth and Endocrine Unit, Hirabai Cowasji Jehangir Medical Research Institute, Pune, Maharashtra, India

We present a 7-year-old girl with Rubinstein-Taybi syndrome (RTS) and slipped capital femoral epiphysis (SCFE). She underwent bilateral arthroscopy with implant fixation for the SCFE and the symptoms resolved. This was followed by fracture of the femur after minor trauma. Read More

Sci Rep 2021 08 5;11(1):15931. Epub 2021 Aug 5.

Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

Rubinstein-Taybi syndrome (RSTS) is a human genetic disorder characterized by distinctive craniofacial features, broad thumbs and halluces, and intellectual disability. Mutations in the CREB binding protein (CREBBP) and E1A binding protein p300 (EP300) are the known causes of RSTS disease. EP300 regulates transcription via chromatin remodeling and plays an important role in cell proliferation and differentiation. Read More

Res Dev Disabil 2021 Sep 13;116:104029. Epub 2021 Jul 13.

Department of Medical Genetics, CHU Bordeaux, Place Amélie Raba Léon, 33076 Bordeaux Cedex, France; INSERM Unit 1211, Laboratory "Rare Diseases: Genetics and Metabolism", University of Bordeaux, Place Amélie Raba Léon, 33076 Bordeaux Cedex, France.

Background: Cognitive and socio-emotional profiles of children with CREBBP-related Rubinstein-Taybi syndrome (RSTS 1), children with Autism Spectrum Disorder (ASD) with severe intellectual disability and developmental ages (DA) under 24 months, and typically developing (TD) children with similar DA were compared.

Participants: Thirty-one children with RSTS 1 (mean chronological age, CA = 59,8 months; 33-87) and thirty children with ASD, matched on CA and DA and developmental quotients (DQ), were compared to thirty TD children (CA ranged from 12 to 24 months).

Methods: Cognitive and socio-emotional developmental levels, DA and DQ were assessed with appropriated tests. Read More

Hum Mol Genet 2021 11;30(23):2215-2224

Institute of Human Genetics, University Medical Center Göttingen, Göttingen 37073, Germany.

CHARGE syndrome is an autosomal dominant malformation disorder caused by pathogenic variants in the chromatin remodeler CHD7. Affected are craniofacial structures, cranial nerves and multiple organ systems. Depending on the combination of malformations present, its distinction from other congenital disorders can be challenging. Read More