Cristina Gervasini
A5089564913- Genomics and Chromatin Dynamics
- Congenital limb and hand anomalies
- Genomic variations and chromosomal abnormalities
- RNA Research and Splicing
- Orthopedic Surgery and Rehabilitation
- Chromatin Remodeling and Cancer
- RNA modifications and cancer
- Genetic Syndromes and Imprinting
- RNA regulation and disease
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Neurofibromatosis and Schwannoma Cases
- Genomics and Rare Diseases
- Tumors and Oncological Cases
- Pluripotent Stem Cells Research
- Cancer-related gene regulation
- Prenatal Screening and Diagnostics
- Renal and Vascular Pathologies
- Biomedical Research and Pathophysiology
- Immunodeficiency and Autoimmune Disorders
- Congenital heart defects research
- Sexual Differentiation and Disorders
- Chromosomal and Genetic Variations
- Muscle Physiology and Disorders
- Sarcoma Diagnosis and Treatment
University of Milan
2016-2025
Genomics (United Kingdom)
2016
Ospedale San Paolo
2006-2015
IRCCS Istituto Auxologico Italiano
2015
Medical Genetics Center
2010-2014
Department of Medical Sciences
2014
Ospedale San Paolo
2012
Zero to Three
2007-2008
Centro Tecnológico Agroalimentario de Extremadura
2003
Government of Extremadura
2003
Overlapping clinical phenotypes and an expanding breadth complexity of genomic associations are a growing challenge in the diagnosis management Mendelian disorders. The functional consequences impacts variation may involve unique, disorder-specific, DNA methylation episignatures. In this study, we describe 19 novel episignature disorders compare findings alongside 38 previously established episignatures for total 57 associated with 65 genetic syndromes. We demonstrate increasing resolution...
An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures distinct, highly sensitive, and specific biomarkers that have recently been applied clinical diagnosis syndromes. contained within the broader disorder-specific changes, which can share significant overlap among different conditions. In this study, we performed functional genomic assessment comparison overlapping changes related 65 with...
Abstract Background Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) consists of congenital aplasia the uterus and upper part vagina due to anomalous development Müllerian ducts, either isolated or associated with other malformations, including renal, skeletal, hearing heart defects. This disorder has an incidence approximately 1 in 4500 newborn girls aetiology is poorly understood. Methods Results we report on two patients affected by MRKH which array-CGH analysis disclosed identical deletion...
Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder characterized by facial dysmorphisms, upper limb abnormalities, growth and cognitive retardation. About half of all patients with CdLS carry mutations in the NIPBL gene. The first Italian cohort involving 62 (including 4 related members) was screened for after clinical evaluation using quantitative score that integrates auxological, malformation neurodevelopmental parameters. were classified as having an overall ‘severe’,...
SMC1A encodes one of the proteins cohesin complex. variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing in individuals with encephalopathy epilepsy who do not resemble CdLS. We performed an international, interdisciplinary study on 51 for physical and behavioral characteristics, compare results those 67 NIPBL variants. For Netherlands all were studied, both without CdLS phenotype. Individuals can CdLS, but...
Facial analysis systems are becoming available to healthcare providers aid in the recognition of dysmorphic phenotypes associated with a multitude genetic syndromes. These technologies automatically detect facial points and extract various measurements from images recognize features evaluate similarities known patterns (gestalts). To such systems' usefulness for supporting clinical practice professionals, accuracy Cornelia de Lange syndrome ( CdLS ) phenotype was examined FDNA 's automated...
Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features and cognitive deficit. Mutations in two genes, CREBBP EP300, encoding homologous transcriptional co-activators, have been identified ˜55% ˜3-5% of affected individuals, respectively. To date, only eight EP300-mutated RSTS patients described 12 additional mutations are reported the database LOVD. In this study, EP300...
Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) its regulators (NIPBL, HDAC8), account for at least 70% patients with CdLS or CdLS-like phenotypes. To date, only clinical features from a single patient SMC3 mutation has been published. Here, we report efforts an international research...
Cornelia de Lange syndrome (CdLS) and KBG are two distinct developmental pathologies sharing common features such as intellectual disability, psychomotor delay, some craniofacial limb abnormalities. Mutations in one of the five genes NIPBL, SMC1A, SMC3, HDAC8 or RAD21, were identified at least 70% patients with CdLS. Consequently, additional causative genes, either unknown responsible partially merging entities, possibly account for remaining 30% patients. In contrast, has only been...
<h3>Background</h3> Rubinstein–Taybi syndrome (RSTS) is a congenital neurodevelopmental disorder defined by postnatal growth deficiency, characteristic skeletal abnormalities and mental retardation caused mutations in the genes encoding for transcriptional co-activators with intrinsic lysine acetyltransferase (KAT) activity CBP p300. Previous studies have shown that neuronal histone acetylation reduced mouse models of RSTS. <h3>Methods</h3> The authors identified different at <i>CREBBP</i>...
The genetic basis of Rubinstein-Taybi syndrome (RSTS), a rare, sporadic, clinically heterogeneous disorder characterized by cognitive impairment and wide spectrum multiple congenital anomalies, is primarily due to private mutations in CREBBP (approximately 55% cases) or EP300 8% cases). Herein, we report the clinical data taken from cohort 46 RSTS patients, all carriers point mutations. Molecular analysis revealed 45 different gene alterations including 31 inactivating (21 frameshift 10...
Mutations affecting the transcriptional regulator Ankyrin Repeat Domain 11 (ANKRD11) are mainly associated with multisystem developmental disorder known as KBG syndrome, but have also been identified in individuals Cornelia de Lange syndrome (CdLS) and other disorders caused by variants different chromatin regulators. The extensive functional overlap of these proteins results shared phenotypical features, which complicate assessment clinical diagnosis. Additionally, re-evaluation at a later...
Abstract Background Rubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital disorder characterized by mental and growth retardation, broad duplicated distal phalanges of thumbs halluces, facial dysmorphisms increased risk tumors. RSTS caused chromosomal rearrangements point mutations in one copy the CREB-binding protein gene ( CREBBP or CBP ) 16p13.3. To date have been reported 56.6% patients an average figure 10% has ascribed to deletions. Methods Our study based on mutation...
Abstract Background Poikiloderma with Neutropenia (PN) is a rare autosomal recessive genodermatosis caused by C16orf57 mutations. To date 17 mutations have been identified in 31 PN patients. Results We characterize six patients expanding the clinical phenotype of syndrome and mutational repertoire gene. detect two novel mutations, c.232C>T c.265+2T>G, as well already reported c.179delC, c.531delA c.693+1G>T cDNA analysis evidences presence aberrant transcripts, bioinformatic...