Genetics of autism

Autism is a neuropsychiatric disorder with profound family and social consequences. An extraordinary number of genetical-clinical, cytogenetics and molecular studies were done in recent years. A multiloci epistatic model involved in the causation of autism have emerged from these studies.O autismo é uma doença neuropsiquiátrica com profundas conseqüências sociofamilares. Inúmeros trabalhos investigaram pacientes e famílias com metodologia genético-clínica, citogenética e biologia molecular. Os resultados destes trabalhos apontam para um modelo multiloci com interação epistática associado à etiologia do autismo.Universidade Federal de São Paulo (UNIFESP) Departamento de MorfologiaUniversidade Federal de São Paulo (UNIFESP) Departamento de Morfologia e Pediatria Centro de Genética MédicaUniversidade Presbiteriana MackenzieUNIFESP, Depto. de MorfologiaUNIFESP, Depto. de Morfologia e Pediatria Centro de Genética MédicaSciEL

DDIT3, STT3A (ITM1), ARG2 and FAM129A (Niban, C1orf24) in diagnosing thyroid carcinoma: variables that may affect the performance of this antibody-based test and promise

Universidade Federal de São Paulo, Dept Morphol & Genet, Lab Base Genet Turmores Tiroide, BR-04039032 São Paulo, BrazilUniversidade Federal de São Paulo, Dept Morphol & Genet, Lab Base Genet Turmores Tiroide, BR-04039032 São Paulo, BrazilWeb of Scienc

AGK-BRAF gene fusion is a recurrent event in sporadic pediatric thyroid carcinoma

Thyroid cancer is the fastest increasing cancer worldwide in all age groups. Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer in both adults and children. PTC genomic landscape has been extensively studied in adults, but information regarding sporadic pediatric patients is lacking. Although BRAF V600E mutation is highly prevalent in adults, this mutation is uncommon in pediatric cases. As adult and pediatric PTC is a mitogen-activated protein kinase-driven cancer, this altered pathway might be activated by different genetic events. The aim of this study was to investigate the occurrence of AGK-BRAF fusion gene, recently described in radiation-exposed pediatric PTC, in a cohort of exclusively sporadic pediatric PTC. The series consisted of 30 pediatric PTC younger than 18 years of age at the time of diagnosis and 15 matched lymph node metastases (LNM). Primary tumors and matched LNM were screened for the presence of the AGK-BRAF fusion transcript by RT-PCR. To confirm the identity of the amplified products, randomly selected samples positive for the presence of the fusion transcripts were sequenced. Moreover, BRAF dual-color, break-apart probes confirmed BRAF rearrangement. Overall, the AGK-BRAF fusion gene was detected in 10% (3/30) of primary tumors. For one of these cases, paired LNM was also available, which also shows the presence of AGK-BRAF fusion gene. This study described, for the first time, the presence of AGK-BRAF in sporadic pediatric PTC. Understanding the molecular events underlying pediatric PTC may improve preoperative diagnosis, allow molecular prognostication and define a therapeutic approach toward sporadic PTC patients.Sao Paulo State Research Foundation (FAPESP)CNPqFAPESP scholarUniv Fed Sao Paulo, Dept Morphol & Genet, Div Genet, Genet Bases Thyroid Tumors Lab, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Pathol, Sao Paulo, SP, BrazilIrmandade Santa Casa Misericordia Sao Paulo, Dept Pediat, Sao Paulo, SP, BrazilIrmandade Santa Casa Misericordia Sao Paulo, Dept Med, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Morphol & Genet, Div Genet, Genet Bases Thyroid Tumors Lab, Sao Paulo, SP, BrazilUniv Fed Sao Paulo, Dept Pathol, Sao Paulo, SP, BrazilFAPESP: 2012/02902-9FAPESP: 2013/03867-5FAPESP: 2014/06570-6CNPq: 470441/2013-5Web of Scienc

Balanced X autosome translocation suggests association of AMMECR1 disruption with hearing loss short stature bone and heart alterations

Univ Fed Sao Paulo, Dept Morphol & Genet, Sao Paulo, BrazilUniv Geneva, Dept Genet Med & Dev, Geneva, SwitzerlandUniv Lausanne, Ctr Integrat Genom, Lausanne, SwitzerlandBaylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAHop Jeanne De Flandre, Clin Genet, Lille, FranceUniv Fed Sao Paulo, Dept Psychobiol, Sao Paulo, BrazilUniv Sao Paulo, Dept Pathol, Sao Paulo, BrazilFriedrich Schiller Univ, Inst Human Genet, Jena, GermanyHop Jeanne De Flandre, Inst Genet Med, Lille, FranceUniv Fed Sao Paulo, Dept Morphol & Genet, Sao Paulo, BrazilUniv Fed Sao Paulo, Dept Psychobiol, Sao Paulo, BrazilWeb of Scienc

miR-106b modulates C1orf24 expression in thyroid tumors

Universidade Federal de São Paulo, São Paulo, BrazilUniversidade Federal de São Paulo, EPM, São Paulo, BrazilWeb of Scienc

Doença de Hungtinton, herança autossômica dominante

Herança que necessita somente de um gene mutado para o desenvolvimento da doença, como por exemplo a Coreia de Huntington, uma doença neurodegenerativa acarretada por uma mutação do gene huntintina localizado no cromossomo 4. Neste trabalho foi realizado uma peça teatral exemplificando um caso clínico de um portador da doença de Huntington