A5052213809- Genomics and Rare Diseases
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Lysosomal Storage Disorders Research
- Neurogenetic and Muscular Disorders Research
- Congenital heart defects research
- Coenzyme Q10 studies and effects
- Biochemical Acid Research Studies
- Fetal and Pediatric Neurological Disorders
- Connective tissue disorders research
- Protein Tyrosine Phosphatases
- Galectins and Cancer Biology
- Skin and Cellular Biology Research
- Genetic Syndromes and Imprinting
- Anesthesia and Neurotoxicity Research
- Trypanosoma species research and implications
- Alzheimer's disease research and treatments
- Cleft Lip and Palate Research
- Genomic variations and chromosomal abnormalities
- DNA Repair Mechanisms
- Cerebrospinal fluid and hydrocephalus
- Genetic and rare skin diseases.
- Neonatal and fetal brain pathology
- Glycogen Storage Diseases and Myoclonus
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2020-2024
Mendelics
2022-2024
Genomic (Brazil)
2022-2024
Instituto do Câncer do Estado de São Paulo
2024
Universidade de São Paulo
2021-2024
Universidade Federal do Ceará
2024
Universidade Federal do Rio Grande do Norte
2019
Universidad de Sevilla
1998
Xia‒Gibbs syndrome (XGS) is a rare intellectual disability (ID) caused by de novo AHDC1 pathogenic variants. We characterized clinical and molecular features of 16 Brazilian patients with XGS. Patient data were collected through semistructured interviews family members, reanalysis previous health genetic assessments, reports from physicians. Genomic variants their segregation validated via Sanger sequencing. Statistical analyses conducted to evaluate genotype‒phenotype associations. Twelve...
Xia‒Gibbs syndrome (XGS) is a rare intellectual disability (ID) caused by de novo AHDC1 pathogenic variants. We characterized clinical and molecular features of 16 Brazilian patients with XGS. Patient data were collected through semistructured interviews family members, reanalysis previous health genetic assessments, reports from physicians. Genomic variants their segregation validated via Sanger sequencing. Statistical analyses conducted to evaluate genotype‒phenotype associations. Twelve...
Abstract We report the clinical and molecular data of a large cohort comprising 242 individuals with RASopathies, from single Tertiary Center in Brazil, largest study Latin America. Noonan syndrome represented 76% subjects, heterozygous variants nine different genes, mainly PTPN11 , SOS1 RAF1 LZTR1 RIT1 detected by Sanger next‐generation sequencing. The latter was applied to 126 individuals, positive yield 63% genes RAS/MAPK cascade. present evidence that there are some allelic differences...
Rothmund-Thomson syndrome (RTS) is a rare, heterogeneous autosomal recessive genodermatosis, with poikiloderma as its hallmark. It classified into two types: type I, biallelic variants in ANAPC1 and juvenile cataracts, II, RECQL4, increased cancer risk no cataracts. We report on six Brazilian probands siblings of Swiss/Portuguese ancestry presenting severe short stature, widespread congenital ocular anomalies. Genomic functional analysis revealed compound heterozygosis for deep intronic...
Abstract The autosomal dominant Okur–Chung neurodevelopmental syndrome (OCNDS: OMIM #617062) is a rare disorder first described in 2016. Features include developmental delay (DD), intellectual disability (ID), behavioral problems, hypotonia, language deficits, congenital heart abnormalities, and non‐specific dysmorphic facial features. OCNDS caused by heterozygous pathogenic variants CSNK2A1 (OMIM *115440; NM_177559.3). To date, 160 patients have been diagnosed worldwide. number will likely...
Pathogenic variants in presenilin 1
Abstract Cerebellofaciodental syndrome is characterized by facial dysmorphisms, intellectual disability, cerebellar hypoplasia, and dental anomalies. It an autosomal‐recessive condition described in 2015 caused pathogenic variants BRF1 . Here, we report a Brazilian patient who faced diagnostic challenge beginning at 11 months of age. Fortunately, whole‐exome sequencing (WES) was performed, detecting the NM_001519.3:c.1649delG:p.(Gly550Alafs*36) c.421C>T:p.(Arg141Cys) compound...
Abstract Mucopolysaccharidosis type IIIB is a rare autosomal recessive disorder characterized by deficiency of the enzyme N‐acetyl‐alpha‐ d ‐glucosaminidase (NAGLU), caused biallelic pathogenic variants in NAGLU gene, which leads to storage heparan sulfate and series clinical consequences hallmark neurodegeneration. In this study clinical, epidemiological, biochemical data were obtained from MPS patients diagnosed 2004–2019 Brazil Network (“Rede Brasil”), was created with goal provide an...
Recent studies suggest that transcript isoforms significantly overlap (approximately 60%) between brain tissue and Epstein–Barr virus-transformed lymphoblastoid cell lines (LCLs). Interestingly, 14 cohesion-related genes with variants cause Cornelia de Lange Syndrome (CdLS) are highly expressed in the LCLs. In this context, we first performed RNA sequencing of LCLs from 22 solved (with pathogenic variants) 19 unsolved no confirmed CdLS cases. Next, an pipeline was developed using cases two...
A six-year-old boy with nystagmus and developmental delay from six months of age, was born healthy firstdegree cousins.On neurological examination, he presented spontaneous multidirectional nystagmus, gait upper limb ataxia, lower hyperreflexia/spasticity.Brain magnetic resonance disclosed a hypomyelinating pattern (Figure).Pelizaeus-Merzbacher disease considered, although there unusual pontine dysmyelination.Pelizaeus-Merzbacher excluded as the PLP1 gene sequencing...
Mucopolysaccharidosis type IIIB (MPS IIIB) is caused by deficiency of alpha-N-acetylglucosaminidase, leading to storage heparan sulphate. The disease characterized intellectual disability and hyperactivity, among other neurological somatic features. Here we studied retrospective data from a total 19 MPS patients Brazil, aiming evaluate progression. Mean age at diagnosis was 7.2 years. Speech delay one the first symptoms be identified, around 2-3 years age. Behavioral alterations include...
<title>Abstract</title> <bold>Background/Objectives:</bold> <italic>KMT2B</italic>-related dystonia (DYT28, OMIM #617284), is a progressive neurological condition characterized by early-onset movement disorders with autosomal dominant inheritance. In this study, we describe the use of genome methylation epi-signature methodology to functionally validate 2 variants uncertain significance (VUS) in <italic>KMT2B</italic> gene. <bold>Methods:</bold> Genome-wide status was assessed using EPIC...
KMT2B-related dystonia (DYT28, OMIM #617284) is a progressive neurological condition characterized by early onset movement disorders with autosomal dominant inheritance. In this study, we describe the use of genome methylation episignature methodology to functionally validate two variants uncertain significance (VUS) in KMT2B gene.
ABSTRACT Split hand‐foot malformation (SHFM) is a congenital limb affecting primarily the central rays of hands and/or feet, with variable expressivity, incomplete penetrance and syndromic forms. It genetically heterogeneous, including point mutations structural variants in different loci. Five individuals SHFM were clinically evaluated Tertiary Center Brazil: four them presented additional, nonskeletal findings, one individual split foot, hand syndactyly, ectodermal findings. Structural...
Abstract Sotos syndrome is characterized by overgrowth starting before birth through childhood with intellectual disability and craniofacial anomalies. The majority of patients are large for gestational age developmental delay or disability. cases caused pathogenic variants in NSD1 . most consistent physical features this disorder facial dysmorphisms including prominent forehead, downslanted palpebral fissures, prognathism a pointed chin, long narrow face. We present follow‐up to cohort 11...