DEBORA ROMEO BERTOLA
Projetos de Pesquisa
Unidades Organizacionais
Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina - Médico
BIO, IB
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
BIO, IB
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
3 resultados
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conferenceObject Novel mutations in fibronectin associated with metaphyseal fractures - Expanding the phenotype of patients with a subtype of spondylomethaphyseal dysplasia with ""corner fractures""(2018) ALM, Jessica J.; COSTANTINI, Alice; VALTA, Helena; BARATANG, Nissan Vida; YAP, Patrick; BERTOLA, Debora; YAMAMOTO, Guilherme; KIM, Chong A.; CHEN, Jiani; WIERENGA, Klaas J.; FANNING, Elizabeth A.; ESCOBAR, Luis; MCWALTER, Kirsty; MCLAUGHLIN, Heather; WILLAERT, Rebecca; BEGTRUP, Amber; REINHARDT, Dieter P.; MAKITIE, Outi; CAMPEAU, Philippe M.- Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848(2018) KOCZKOWSKA, Magdalena; CHEN, Yunjia; CALLENS, Tom; GOMES, Alicia; SHARP, Angela; JOHNSON, Sherrell; HSIAO, Meng-Chang; CHEN, Zhenbin; BALASUBRAMANIAN, Meena; BARNETT, Christopher P.; BECKER, Troy A.; BEN-SHACHAR, Shay; BERTOLA, Debora R.; BLAKELEY, Jaishri O.; BURKITT-WRIGHT, Emma M. M.; CALLAWAY, Alison; CRENSHAW, Melissa; CUNHA, Karin S.; CUNNINGHAM, Mitch; D'AGOSTINO, Maria D.; DAHAN, Karin; LUCA, Alessandro De; DESTREE, Anne; DHAMIJA, Radhika; EOLI, Marica; EVANS, D. Gareth R.; GALVIN-PARTON, Patricia; GEORGE-ABRAHAM, Jaya K.; GRIPP, Karen W.; GUEVARA-CAMPOS, Jose; HANCHARD, Neil A.; HERNANDEZ-CHICO, Concepcion; IMMKEN, LaDonna; JANSSENS, Sandra; JONES, Kristi J.; KEENA, Beth A.; KOCHHAR, Aaina; LIEBELT, Jan; MARTIR-NEGRON, Arelis; MAHONEY, Maurice J.; MAYSTADT, Isabelle; MCDOUGALL, Carey; MCENTAGART, Meriel; MENDELSOHN, Nancy; MILLER, David T.; MORTIER, Geert; MORTON, Jenny; PAPPAS, John; PLOTKIN, Scott R.; POND, Dinel; ROSENBAUM, Kenneth; RUBIN, Karol; RUSSELL, Laura; RUTLEDGE, Lane S.; SALETTI, Veronica; SCHONBERG, Rhonda; SCHREIBER, Allison; SEIDEL, Meredith; SIQVELAND, Elizabeth; STOCKTON, David W.; TREVISSON, Eva; ULLRICH, Nicole J.; UPADHYAYA, Meena; MINKELEN, Rick van; VERHELST, Helene; WALLACE, Margaret R.; YAP, Yoon-Sim; ZACKAI, Elaine; ZONANA, Jonathan; ZURCHER, Vickie; CLAES, Kathleen; MARTIN, Yolanda; KORF, Bruce R.; LEGIUS, Eric; MESSIAEN, Ludwine M.Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1: 2,000-3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p. Arg1809 and a single amino acid deletion p.Met922del. Both variants predispose to a distinct mild NF1 phenotype with neither externally visible cutaneous/plexiform neurofibromas nor other tumors. Here, we report 162 individuals (129 unrelated probands and 33 affected relatives) heterozygous for a constitutional missense mutation affecting one of five neighboring NF1 codons-Leu844, Cys845, Ala846, Leu847, and Gly848-located in the cysteine-serine-rich domain (CSRD). Collectively, these recurrent missense mutations affect similar to 0.8% of unrelated NF1 mutation-positive probands in the University of Alabama at Birmingham (UAB) cohort. Major superficial plexiform neurofibromas and symptomatic spinal neurofibromas were more prevalent in these individuals compared with classic NF1-affected cohorts (both p < 0.0001). Nearly half of the individuals had symptomatic or asymptomatic optic pathway gliomas and/or skeletal abnormalities. Additionally, variants in this region seem to confer a high predisposition to develop malignancies compared with the general NF1-affected population (p = 0.0061). Our results demonstrate that these NF1 missense mutations, although located outside the GAP-related domain, may be an important risk factor for a severe presentation. A genotype-phenotype correlation at the NF1 region 844-848 exists and will be valuable in the management and genetic counseling of a significant number of individuals.
conferenceObject Genetic Investigation of Children with Syndromic Prenatal Onset Short Stature(2018) HOMMA, Thais; FREIRE, Bruna; RONJO, Rachel; DAUBER, Andrew; FUNARI, Mariana; LERARIO, Antonio; ARNHOLD, Ivo; CANTON, Ana; SUGAYAMA, Sofia; BERTOLA, Debora; KIM, Chong; MALAQUIAS, Alexsandra; JORGE, Alexander