Caio Robledo QuaioUniversity of São Paulo | USP · Hospital das Clínicas (FMUSP)
Caio Robledo Quaio
MD
Medical Geneticist at Hospital Israelita Albert Einstein; PhD candidate and researcher at Universidade de São Paulo
About
64
Publications
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Introduction
Additional affiliations
March 2021 - June 2021
January 2012 - present
January 2012 - present
Publications
Publications (64)
Rare diseases comprise a diverse group of conditions, most of which involve genetic causes. We describe the variable spectrum of findings and clinical impacts of exome sequencing (ES) in a cohort of 500 patients with rare diseases. In total, 164 primary findings were reported in 158 patients, representing an overall diagnostic yield of 31.6%. Most...
The association of RASopathies [Noonan syndrome (NS) and Noonan-related syndromes] and autoimmune disorders has been reported sporadically. However, a concomitant evaluation of autoimmune diseases and an assessment of multiple autoantibodies in a large population of patients with molecularly confirmed RASopathy have not been performed. The clinical...
Several Mendelian disorders follow an autosomal recessive inheritance pattern. Epidemiological information on many inherited disorders may be useful to guide health policies for rare diseases, but it is often inadequate, particularly in developing countries. We aimed to calculate the carrier frequencies of rare autosomal recessive Mendelian disease...
Advances in DNA sequencing technologies, especially next-generation sequencing (NGS), which is the basis for whole-exome sequencing (WES) and whole-genome sequencing (WGS), have profoundly transformed immune-mediated rheumatic disease diagnosis. Recently, substantial cost reductions have facilitated access to these diagnostic tools, expanded the ca...
Background
Lactose tolerant test (LTT) is the most broadly used diagnostic test for lactose intolerance in Brazil, is an indirect, minimally invasive and a low-cost test that is widely available in primary care and useful in clinical practice. The C/T-13910 polymorphism in lactase persistence has been well characterized in Caucasian populations, bu...
Background
Next-generation sequencing has had a significant impact on genetic disease diagnosis, but the interpretation of the vast amount of genomic data it generates can be challenging. To address this, the American College of Medical Genetics and Genomics and the Association for Molecular Pathology have established guidelines for standardized va...
Objective
To report the effectiveness of early molecular diagnosis in the clinical management of rare diseases, presenting eight patients with 8p23.1DS who have clinical features that overlap the phenotypic spectrum of 22q11.2DS.
Study design
This report is part of a previous study that aims to provide a precocious molecular diagnosis of the 22q11...
Hearing loss (HL) is a common sensory deficit in humans and represents an important clinical and social burden. We studied whole-genome sequencing data of a cohort of 2,097 individuals from the Brazilian Rare Genomes Project who were unaffected by hearing loss to investigate pathogenic and likely pathogenic variants associated with nonsyndromic hea...
De novo deleterious and heritable biallelic mutations in the DNA binding domain (DBD) of the transcription factor deformed epidermal autoregulatory factor 1 (DEAF1) result in a phenotypic spectrum of disorders termed DEAF1-associated neurodevelopmental disorders (DAND). RNA-sequencing using hippocampal RNA from mice with conditional deletion of Dea...
Background
Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme Iduronate-2- Sulfatase (IDS), leading to progressive accumulation of Glycosaminoglycans (GAGs) in several organs. Over the years, Enzyme Replacement Therapy (ERT) has provided significant benefi...
Genomic studies may generate massive amounts of data, bringing interpretation challenges. Efforts for the differentiation of benign and pathogenic variants gain importance. In this article, we used segregation analysis and other molecular data to reclassify to benign or likely benign several rare clinically curated variants of autosomal dominant in...
Background
Several metabolic disorders follow an autosomal recessive inheritance pattern. Epidemiological information on these disorders is usually limited in developing countries. Our objective is to assess carrier frequencies of rare autosomal recessive metabolic diseases in a cohort of Brazilian patients that underwent molecular investigation wi...
Genomic studies may generate massive amounts of data, bringing interpretation challenges. Efforts for the differentiation of benign and pathogenic variants gain importance.
In this article, we used segregation analysis and other molecular data to reclassify to benign or likely benign several rare clinically curated variants of autosomal dominant in...
We have recently studied the genomic findings of 500 Brazilian patients with suspected rare diseases of genetic etiology that have undergone exome sequencing for diagnostic purposes. This is one of the largest cohorts of rare diseases ever published in Latin America.
We have unraveled the diagnosis in 158 patients, which represents an overall diag...
Several metabolic disorders follow an autosomal recessive inheritance pattern. Epidemiological information on these disorders is usually limited in developing countries. Our objective is to assess carrier frequencies of rare autosomal recessive metabolic diseases in a cohort of Brazilian patients that underwent molecular investigation with exome se...
Literature regarding genomic studies for rare diseases is limited in Latin America. We describe the variable spectrum of primary findings, secondary findings, carrier status for recessive diseases and clinical impact of exome sequencing (ES) in a cohort of 500 Brazilian patients with rare diseases. In total, 164 primary findings were reported in 15...
Several metabolic disorders follow an autosomal recessive inheritance pattern. Epidemiological information on these disorders are usually limited in developing countries. Our objective is to assess carrier frequencies of rare autosomal recessive metabolic diseases in a cohort of Brazilian patients that underwent molecular investigation with exome s...
Next-generation sequencing (NGS) has altered clinical genetic testing by widening the access to molecular diagnosis of genetically determined rare diseases. However, physicians may face difficulties selecting the best diagnostic approach. Our goal is to estimate the rate of possible molecular diagnoses missed by different targeted gene panels using...
Genomic studies may generate massive amounts of data, bringing interpretation challenges. Efforts for the differentiation of benign and pathogenic variants gain importance. In this article, we used segregation analysis and other molecular data to reclassify to benign or likely benign several rare clinically curated variants of autosomal dominant in...
Next-generation sequencing (NGS) has altered clinical genetic testing by widening the access to molecular diagnosis of genetically determined rare diseases. However, physicians may face difficulties selecting the best diagnostic approach. Our goal is to estimate the rate of possible molecular diagnoses missed by different targeted gene panels using...
Introduction: Neurodevelopmental disorders (ND) are a heterogeneous group of neuropsychiatric conditions with relevant social burden and complex underlying etiology that includes digenic and oligogenic contributions. Traditional genetic investigation, which is focused on monogenic etiology, presents limitations because several cases do not present...
Rare diseases comprise a diverse group of conditions, most of which involve genetic causes. We describe the variable spectrum of findings
and clinical impacts of exome sequencing (ES) in a cohort of 500 patients with rare diseases. In total, 164 primary findings were reported in
158 patients, representing an overall diagnostic yield of 31.6%. Most...
In this article, we used segregation analysis and other molecular data to reclassify to benign or likely benign several rare clinically-curated variants of autosomal dominant inheritance from a cohort of 500 Brazilian patients with rare diseases.
Copy number variations (CNVs) are a type of structural variant that leads to changes in DNA dosage through either duplication or deletion of a genomic region. CNVs play an important role in human genetic variation; they impact more bases than single nucleotide polymorphisms (SNPs), and they are also associated with several human diseases. In this c...
Background: Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate-2- sulfatase (IDS), leading to progressive accumulation of glycosaminoglycans (GAGs) in several organs. Over the years, Enzyme Replacement Therapy (ERT) has provided significant benef...
Introduction and objective: Several Mendelian disorders follow a recessive inheritance pattern. Epidemiological information of many inherited disorders is completely insufficient and inconclusive. Lack of epidemiologic studies is particularly true for developing countries. We aim to estimate carrier frequencies of rare recessive Mendelian diseases...
Introduction and objective: Several Mendelian disorders follow a recessive inheritance pattern. Epidemiological information of many inherited disorders is completely insufficient and inconclusive. Lack of epidemiologic studies is particularly true for developing countries. We aim to estimate carrier frequencies of rare recessive Mendelian diseases...
Rare diseases comprise a diverse group of conditions, most of which involve genetic causes. We describe the variable spectrum of findings and clinical impacts of exome sequencing (ES) in a cohort of 500 patients with rare diseases. In total, 164 primary findings were reported in 158 patients, representing an overall diagnostic yield of 31.6%. Most...
Incidental findings in next-generation sequencing-based exams correspond to deleterious variants in clinically-actionable conditions discovered unintentionally in genes that were not the primary objective of analysis. American College of Medical Genetics and Genomics (ACMG) has published recommendations for reporting incidental findings in selectiv...
Background:
Bloom syndrome (BS) is a rare autosomal recessive chromosome instability disorder. The main clinical manifestations are growth deficiency, telangiectasic facial erythema, immunodeficiency, and increased risk to develop neoplasias at early age. Cytogenetic test for sister chromatid exchanges (SCEs) is used as a diagnostic marker for BS....
Besides primary findings (pathogenic/probably pathogenic variants related to the condition that determined genetic investigation) and incidental findings (variants in clinically-actionable conditions enlisted by ACMG), our laboratory also discloses additional findings, which are variants of unknown significance (VUS) in genes associated to conditio...
Gene list of next-generation sequencing (NGS) panel:
Neonatal hemochromatosis (NH) is a severe, progressive, life-threatening disorder that leads to hepatic failure during the first weeks of life and is associated with
massive iron deposits. Our male infant developed recurrent hypoglycemia, cholestatic jaundice, hepatomegaly and hepatic dysfunction. Mass spectrometry analysis of
acylcarnitine and ami...
O mercado de consumo em saúde está sendo impactado por novas
metodologias de estudo genético, sendo que sequenciamento de nova geração (NGS)
e microarray cromossômico ganham destaque no estudo genômico de larga escala.
Estas metodologias diagnósticas apresentam múltiplas indicações, destacando-se
diagnóstico de doenças raras ou desconhecidas, ident...
Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling complex. However, the clinical consequences of disruption of this complex remain largely uncharacterized. BPTF is required for anterior-posterior axis formation of the mouse embryo and was shown...
Background
Breast cancer is the most common among women worldwide, and ovarian cancer is the most difficult gynecological tumor to diagnose and with the lowest chance of cure. Mutations in BRCA1 and BRCA2 genes increase the risk of ovarian cancer by 60% and breast cancer by up to 80% in women. Molecular tests allow a better orientation for patients...
Down syndrome is one of the most prevalent genetic disorders and clinically characterized by multisystem involvement. Follow-up may be challenging for those who lack information about the most common clinical complications, especially in developing nations.
We developed an application compatible with most smartphones of both Android and iOS platfor...
Objective::
To describe the most prominent clinical features of a cohort of patients with oculo-auriculo-vertebral (OAV) dysplasia in Brazil.
Method::
A review of medical records of patients with diagnosis of OAV from 1990 to 2010 was performed in a medical genetics center.
Results::
41 patients were included in the study. Their average age at...
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder resulting from loss-of-function mutations in the UBR1 gene. JBS can be easily recognized by its unique clinical presentation (including exocrine pancreatic insufficiency, hypoplasia/aplasia of the alae nasi, congenital scalp defects, sensorineural hearing loss, growth retardati...
Mucopolysaccharidosis type IVA is a rare lysosomal storage disease caused by a deficiency of N-acetylgalactosamine 6-sulfatase. Studies usually focus on skeletal abnormalities and their consequences. This study explores the neurological manifestations in a cohort of mucopolysaccharidosis type IVA patients, with a detailed focus on brain and spinal...
Bloom syndrome is a rare, autosomal recessive, chromosomal instability disorder caused by mutations in the BLM gene that increase the risk of developing neoplasias, particularly lymphomas and leukemias, at an early age.
Case 1 was a 10-year-old Brazilian girl, the third child of a non-consanguineous non-Jewish family, who was born at 36 weeks of ge...
Objective:
Mucopolysaccharidosis type VI is a rare autosomal recessive storage disorder, caused by deficiency of arylsulfatase B. Data on neurological involvement in mucopolysaccharidosis type VI patients under enzyme-replacement therapy are limited. This study explores the neurological and magnetic resonance imaging findings in a sample of mucopo...
Noonan and Noonan-related syndromes are common autosomal dominant disorders with neuro-cardio-facial-cutaneous and developmental involvement. The objective of this article is to describe the most relevant tegumentary findings in a cohort of 41 patients with Noonan or Noonan-related syndromes and to detail certain aspects of the molecular mechanisms...
Frontonasal dysplasias (FND) comprise a spectrum of disorders caused by abnormal median facial development. Its etiology is still poorly understood but recently frontonasal dysplasia phenotypes were linked to loss-of-function mutations in the ALX homeobox gene family, which comprises the ALX1, ALX3, and ALX4 genes. All ALX-related frontonasal pheno...
Prader-Willi Syndrome is a common etiology of syndromic obesity that is typically caused by either a paternal microdeletion of a region in chromosome 15 (microdeletions) or a maternal uniparental disomy of this chromosome. The purpose of this study was to describe the most significant clinical features of 35 Brazilian patients with molecularly conf...
A esclerose tuberosa (ET) e uma doenca multissistemica de heranca autossomica dominante caracterizada pelo desenvolvimento de hamartomas em diversos orgaos, com incidencia estimada em 1:10.000 a 1:6.000 nascidos vivos. Sua ocorrencia relaciona-se a mutacoes com perda de funcao nos genes TSC1 e TSC2, cujos produtos proteicos (respectivamente hamarti...
Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a distinctive facial appearance. Occurrence is generally sporadic, although parent-to-child transmission has been reported on occasion. Employing whole-exome sequencing, we identified heterozygous truncati...
Hunter syndrome, or Mucopolysaccharidosis type II (MPS II), is a rare X-linked recessive disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). The phenotypic spectrum varies from severe to attenuated clinical forms. We report a large Brazilian family with 16 affected individuals exhibiting a very attenuated form of MP...
Hunter syndrome (MPSII) is a rare X-linked lysosomal storage disorder that can affect multiple systems but primarily affects the heart. We report the case of a previously asymptomatic 23-year-old patient who had an attenuated form of MPSII and presented with refractory heart failure that required a heart transplant. The diagnosis was confirmed by d...
Systemic lupus erythematosus (SLE) is a chronic inflammatory autoimmune disease affecting mainly young women. In last decades premature atherosclerosis has been identified as an important cause of mortality due to SLE related risk factors (inflammation and treatment) and metabolic syndrome (MS). MS is a group of risk factors, originating from an ab...
OBJECTIVES: The aim of this study was to analyze the prevalence and characteristics of the main clinical, immunologic and laboratorial features of antiphospholipid syndrome (APS), and to perform a comparison between primary and secondary forms of APS. PATIENTS AND METHODS: A data base of 149 patients from HCFMUSP who met the preliminary criteria fo...
Questions
Question (1)
Hello all,
We are planning to submit a manuscript to International Journal of Molecular Sciences, published by MDPI. What is your opinion about the publisher and the journal? Reputation? Are they predatory?
I thank in advance!