Francesco Benedicenti
YOU?
Author Swipe
View article: Argo Delphi consensus statement on red flags and clinical gateways towards rare disease diagnosis
Argo Delphi consensus statement on red flags and clinical gateways towards rare disease diagnosis Open
People living with a rare disease can wait months to years for a confirmed diagnosis after symptom onset, mainly due to low prevalence, lack of awareness of primary healthcare professionals, heterogeneous clinical presentation and/or pecul…
View article: Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge Open
Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, and epilepsy. The intricate genetic underpinnings of…
View article: An unusual presentation of Huntington’s disease-like syndrome in a patient with Xeroderma pigmentosum type F: Case report and review of the literature
An unusual presentation of Huntington’s disease-like syndrome in a patient with Xeroderma pigmentosum type F: Case report and review of the literature Open
We describe an XP-patient with a Huntingtońs disease (HD)-like syndrome with discrete cerebellar ataxia. Through reviewing the literature, we identified a total of 41 XP-patients with chorea. Therefore, we suggest testing of NER genes in p…
View article: Genetic Variants and Phenotypic Data Curated for the CAGI6 Intellectual Disability Panel Challenge
Genetic Variants and Phenotypic Data Curated for the CAGI6 Intellectual Disability Panel Challenge Open
Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, and epilepsy. The intricate genetic underpinnings of…
View article: SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline Open
View article: Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients
Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients Open
The original
View article: Natural history of adults with KBG syndrome: A physician-reported experience
Natural history of adults with KBG syndrome: A physician-reported experience Open
View article: Olfactory bulb anomalies in KBG syndrome mouse model and patients
Olfactory bulb anomalies in KBG syndrome mouse model and patients Open
View article: Olfactory bulb anomalies in KBG syndrome mouse model and patients
Olfactory bulb anomalies in KBG syndrome mouse model and patients Open
ANKRD11 (Ankyrin Repeat Domain 11) is a chromatin regulator and the only gene associated with KBG syndrome, a rare neurodevelopmental disorder. We have previously shown that Ankrd11 regulates murine embryonic cortical neurogenesis. Here, w…
View article: Rare variants in 45 genes account for 25% of cases with NDDs in 415 pediatric patients
Rare variants in 45 genes account for 25% of cases with NDDs in 415 pediatric patients Open
Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, and epilepsy. Understanding the genetic causes of ND…
View article: Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation
Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation Open
View article: Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene
Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene Open
Mutations in the SZT2 gene have been associated with developmental and epileptic encephalopathy-18, a rare severe autosomal recessive neurologic disorder, characterized by psychomotor impairment/intellectual disability, dysmorphic facial f…
View article: Natural history of KBG syndrome in a large European cohort
Natural history of KBG syndrome in a large European cohort Open
KBG syndrome (KBGS) is characterized by distinctive facial gestalt, short stature and variable clinical findings. With ageing, some features become more recognizable, allowing a differential diagnosis. We aimed to better characterize natur…
View article: Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia
Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia Open
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PD…
View article: Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus
Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus Open
Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a late-onset, autosomal dominant disease caused by progressive extracellular deposition of transthyretin amyloid fibrils, leading to organ damage and death. For other late-onse…
View article: A clinical scoring system for congenital contractural arachnodactyly
A clinical scoring system for congenital contractural arachnodactyly Open
Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features. Due to its rarity, rather aspecific clinic…
View article: Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype Open
View article: Characterization of intellectual disability and autism comorbidity through gene panel sequencing
Characterization of intellectual disability and autism comorbidity through gene panel sequencing Open
View article: Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation Open
Background Hyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2 which leads to loss of function of the transmembrane protein anthrax toxin receptor 2. It is distinguished by characteristic skin lesi…
View article: A clinical scoring system for congenital contractural arachnodactyly
A clinical scoring system for congenital contractural arachnodactyly Open
View article: Characterization of intellectual disability and autism comorbidity through gene panel sequencing
Characterization of intellectual disability and autism comorbidity through gene panel sequencing Open
Intellectual disability (ID) and autism spectrum disorder (ASD) are clinically and genetically heterogeneous diseases. Recent whole exome sequencing studies indicated that genes associated with different neurological diseases are shared ac…
View article: Characterization of Intellectual disability and Autism comorbidity through gene panel sequencing
Characterization of Intellectual disability and Autism comorbidity through gene panel sequencing Open
Intellectual disability (ID) and autism spectrum disorder (ASD) are clinically and genetically heterogeneous diseases. Recent whole exome sequencing studies indicated that genes associated with different neurological diseases are shared ac…
View article: Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly
Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly Open
Variable phenotypic expressivity is observed for this condition, while the location and type of mutations in SZT2 also has a potential impact on epilepsy severity. These findings extend our knowledge of epileptogenic conditions related to …
View article: Regulatory variants of FOXG1 in the context of its topological domain organisation
Regulatory variants of FOXG1 in the context of its topological domain organisation Open
View article: The multiple faces of artwork diagnoses
The multiple faces of artwork diagnoses Open
View article: Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases Open
View article: The Clinical Phenotype of <i>CNGA3</i>-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial
The Clinical Phenotype of <i>CNGA3</i>-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial Open
Our extended investigations prove that even among such a genetically homogenous group of patients, no specific correlations regarding function and morphology severity and age can be observed. Therefore, the therapeutic window seems to be w…
View article: Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia Open
View article: Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors Open
Our data indicate that patients' cells showed constitutive activation of the PI3K/Akt pathway. Of note, PI3K pharmacological blockade resulted in a significant reduction of the proliferation rate in culture, suggesting that inhibition of P…