CHONG AE KIM
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Pediatria, Faculdade de Medicina - Docente
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina - Líder
LIM/03 - Laboratório de Medicina Laboratorial, Hospital das Clínicas, Faculdade de Medicina
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina - Líder
LIM/03 - Laboratório de Medicina Laboratorial, Hospital das Clínicas, Faculdade de Medicina
20 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 20
- Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome(2015) YAMAMOTO, Guilherme Lopes; AGUENA, Meire; GOS, Monika; HUNG, Christina; PILCH, Jacek; FAHIMINIYA, Somayyeh; ABRAMOWICZ, Anna; CRISTIAN, Ingrid; BUSCARILLI, Michelle; NASLAVSKY, Michel Satya; MALAQUIAS, Alexsandra C.; ZATZ, Mayana; BODAMER, Olaf; MAJEWSKI, Jacek; JORGE, Alexander A. L.; PEREIRA, Alexandre C.; KIM, Chong Ae; PASSOS-BUENO, Maria Rita; BERTOLA, Debora RomeoBackground Noonan syndrome is an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. Heterozygous, pathogenic variants in 11 known genes account for approximately 80% of cases. The identification of novel genes associated with Noonan syndrome has become increasingly challenging, since they might be responsible for very small fractions of the cases. Methods A cohort of 50 Brazilian probands negative for pathogenic variants in the known genes associated with Noonan syndrome was tested through whole-exome sequencing along with the relatives in the familial cases. Families from the USA and Poland with mutations in the newly identified genes were included subsequently. Results We identified rare, segregating or de novo missense variants in SOS2 and LZTR1 in 4% and 8%, respectively, of the 50 Brazilian probands. SOS2 and LZTR1 variants were also found to segregate in one American and one Polish family. Notably, SOS2 variants were identified in patients with marked ectodermal involvement, similar to patients with SOS1 mutations. Conclusions We identified two novel genes, SOS2 and LZTR1, associated with Noonan syndrome, thereby expanding the molecular spectrum of RASopathies. Mutations in these genes are responsible for approximately 3% of all patients with Noonan syndrome. While SOS2 is a natural candidate, because of its homology with SOS1, the functional role of LZTR1 in the RAS/MAPK pathway is not known, and it could not have been identified without the large pedigrees. Additional functional studies are needed to elucidate the role of LZTR1 in RAS/MAPK signalling and in the pathogenesis of Noonan syndrome.
- Is melanogenesis disturbed in mucolipidosis II/III? A multicenter study based on clinical and genetic findings(2015) ALEGRA, Taciane; SPERB-LUDWIG, Fernanda; CERQUEIRA, Caio C. S. de; RIBEIRO, Erlane M.; LOURENCO, Charles M.; KIM, Chong A. E.; HOROVITZ, Dafne D. G.; GALERA, Marcial F.; ACOSTA, Angelina X.; BORTOLINI, Maria C.; BAU, Ana E. K.; SCHWARTZ, Ida V. D.
- Recurrence of Frontometaphyseal Dysplasia in Two Sisters With a Mutation in FLNA and an Atypical Paternal Phenotype: Insights Into Genotype-Phenotype Correlation(2015) BERTOLA, Debora; PASSOS-BUENO, Maria Rita; PEREIRA, Alexandre; KIM, Chong; MORGAN, Tim; ROBERTSON, Stephen P.
- Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries(2015) KELMANN, Samantha Vernaschi; QUAIO, Caio Robledo D'Angioli Costa; HONJO, Rachel Sayuri; BERTOLA, Debora Romeo; ROSA NETO, Nilton Salles; LOURENCO, Charles Marques; D'ALMEIDA, Vania; LELLIS, Rute Facchini; RIVITTI-MACHADO, Maria Cecilia; ENOKIHARA, Milvia Maria Simoes e Silva; MICHALANY, Nilceo S.; KIM, Chong Ae
- Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stuve-Wiedemann Syndrome(2015) MARQUES, Julia Hatagami; YAMAMOTO, Guilherme Lopes; TESTAI, Larissa de Cassia; PEREIRA, Alexandre da Costa; KIM, Chong Ae; PASSOS-BUENO, Maria R.; BERTOLA, Debora RomeoStuve-Wiedemann syndrome (SWS, OMIM 601559) is a rare autosomal recessive bent-bone dysplasia, caused by loss-offunction mutations in the leukemia inhibitory factor receptor (LIFR) gene, which usually leads to early death. Only few patients with long-term survival have been described in the literature. We report on a 5-year-old boy from a consanguineous marriage with molecular analysis for the LIFR gene. Sanger and next-generation sequencing (NGS) of LIFR were performed. Copy number variation analysis with NGS showed a novel mutation as the cause for the syndrome: an intragenic homozygous deletion in LIFR, involving exons 1520. Bridging PCR was carried out to confirm the intragenic deletion. This is the first description of a large deletion in LIFR, broadening the spectrum of mutations in SWS. Besides the reported allelic heterogeneity, further studies such as exome sequencing are required to identify a novel gene in order to confirm the locus heterogeneity in SWS. (C) 2015 S. Karger AG, Basel
conferenceObject Cytogenomic investigation in patients with Oculoauriculovertebral Spectrum (OAVS) and candidate loci relevant to phenotype(2015) COLOVATI, Mileny Esbravatti Stephano; BRAGAGNOLO, Silvia; GUILHERME, Roberta Santos; DANTAS, Anelisa Gollo; SOARES, Maria de Fatima; KIM, Chong Ae; PEREZ, Ana Beatriz Alvarez; MELARAGNO, Maria Isabel- Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome(2015) COSTA, Larissa Sampaio de Athayde; ZANDONA-TEIXEIRA, Aline C.; MONTENEGRO, Marilia M.; DIAS, Alexandre T.; DUTRA, Roberta L.; HONJO, Rachel S.; BERTOLA, Debora R.; KULIKOWSKI, Leslie D.; KIM, Chong A.Background: Pallister-Killian syndrome (PKS) is a sporadic genetic disorder caused by the presence of a tissue-specific mosaicism for isochromosome 12p - i(12) (p10) and is characterized by facial dysmorphism including coarse facies, upslanting palpebral fissures, bitemporal alopecia, pigmentary skin anomalies, developmental delay, hypotonia and seizures. Although typical clinical features of PKS commonly exist, clinicians often do not raise the possibility of this diagnosis. Results: We reviewed the medical records of 10 patients with confirmed PKS followed in our service (since 1990 to 2015). Age at diagnosis varied from prenatal to 3 years and clinical features were consistent with those described in the literature. In all patients, peripheral blood karyotypes were normal and cytogenomic study was performed in order to confirm the diagnosis. Three of these patients had PKS diagnosis confirmed by buccal smear MLPA. Conclusion: An early conclusion from our results demonstrated that MLPA on buccal smears is a good and non-invasive method to detect extra copies of 12p and should be considered as the first exam, before a skin biopsy for a fibroblast karyotype is performed.
- Mowat-Wilson syndrome: neurological and molecular study in seven patients(2015) PAZ, Jose Albino da; KIM, Chong Ae; GOOSSENS, Michael; GIURGEA, Irina; MARQUES-DIAS, Maria JoaquinaObjective: To present a seven-cases serie of Mowat-Wilson syndrome (MWS). Method: All patients with positive mutation for the ZEB2 were evaluated by a geneticist and a neurologist, with clinical and laboratorial characterization. Results: A peculiar facies and mental retardation were present in all patients. The Denver II scale showed intense delay in all aspects, especially fine motor and adaptive. Acquired microcephaly was observed in five patients. Only one patient did not present epilepsy. Epilepsy was focal and predominating in sleep, with status epilepticus in three patients. The initial seizure was associated with fever in most patients (4/6). The EEG showed epileptic focal activity (5/7). The imaging studies revealed total agenesis (4/7) and partial agenesis of the corpus callosum (1/7). Conclusion: Physicians who care for patients with mental retardation and epilepsy should be aware of SMW.
conferenceObject Comparison of Illumina Infinium 450K Methylation Bead-Chip preprocessing methods in an Epigenome Wide Association Study(2015) BRUCATO, Martha; SOBREIRA, Nara; ZHANG, L.; LADD-ACOSTA, Christine; ONGACO, Chrissie M.; ROMM, Jane; BAKER, Maggie; DOHENY, Kimberly; BERTOLA, Debora R.; KIM, Chong Ae; PEREZ, Ana B. A.; MELARAGNO, Maria I.; MELONI, Vera A.; VALLE, David; BJORNSSON, HansconferenceObject Evaluation of gene expression and cytogenomic study in patients with 22q11.2 deletion(2015) DANTAS, Anelisa Gollo; MAZZOTTI, Diego; BORTOLAI, Adriana; COLOVATI, Mileny; GUILHERME, Roberta Santos; MOYSES-OLIVEIRA, Mariana; MELONI, Vera Ayres; KIM, Chong Ae; MELARAGNO, Maria Isabel