Consolidation of a multicentric strategy in genetics for database and diagnostic on orofacial clefts

• Grant number: 12/51799-6
• Support Opportunities: Research Grants - Research in Public Policies for the National Health Care System (PP-SUS)
• Start date: July 01, 2013
• End date: December 31, 2015
• Field of knowledge: Health Sciences - Medicine - Maternal and Child Health
• Agreement: CNPq - PPSUS
• Principal Investigator: Vera Lúcia Gil da Silva Lopes
• Grantee: Vera Lúcia Gil da Silva Lopes
• Host Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Abstract

The World Health Organization (WHO) acknowledges that cleft lips and (or) palates (CL+/-P) require investment in public policies, given the high prevalence (about 1:600-1000 newborns), the presence of comorbidities and the prolonged treatment (WHO, 2002). WHO also pointed the importance of genetics evaluation and counseling (WHO, 2002). Most cleft cases are non-syndromic and have multifactorial inheritance. Also, there are around 600 syndromic clefts, in which Deletion 22q11.2 is the most prevalent among cleft palate individuals. In order to plan the health attention for cleft individuals, it would be necessary information about clinical presentation and natural history and identification of population factors of risk. This research team developed, in cooperation with World Health Organization the Brazilian Database on Orofacial Clefts (BDOC), which have been in activity since 2008 in 08 different centers. The advantages of different laboratorial techniques in genetics are also part of studies of this researches and it was designed an algorithm for investigation of 22q11.2 deletion syndrome, as well. Both results are applicable on Brazilian public health system. The aims of this Project are: 1. To improve the registries on BDOC 2. To perform laboratorial diagnostic for cleft individuals. 3. To test cost-effectiveness techniques for diagnosis of 22q11.2 deletion syndrome. The results would contribute to identify prevalent etiologies for clefts, to improve collaborative network of genetics investigation and to define guidelines for health policy for cleft individuals in Brazil. (AU)

Scientific publications

(17)

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

MOLCK, MIRIAM COELHO; SIMIONI, MILENA; VIEIRA, TARSIS PAIVA; MONTEIRO, FABIOLA PAOLI; GIL-DA-SILVA-LOPES, VERA L.. A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4. MOLECULAR SYNDROMOLOGY, v. 8, n. 3, p. 161-167, 2017. (09/08756-1, 12/51799-6, 08/10596-0, 11/23794-7)

SGARDIOLI, ILARIA C.; COPELLI, MATHEUS DE MELLO; MONTEIRO, FABIOLA P.; DOS SANTOS, ANA P.; MENDES, ELAINE LUSTOSA; VIEIRA, TARSIS PAIVA; GIL-DA-SILVA-LOPES, VERA L.. Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases. MOLECULAR SYNDROMOLOGY, v. 8, n. 5, p. 244-252, 2017. (12/51799-6)

MOLCK, MIRIAM COELHO; SIMIONI, MILENA; VIEIRA, TARSIS PAIVA; MONTEIRO, FABIOLA PAOLI; GIL-DA-SILVA-LOPES, VERA L.. A Pure 2-Mb 3q26.2 Duplication Proximal to the Critical Region of 3q Duplication Syndrome. MOLECULAR SYNDROMOLOGY, v. 9, n. 4, p. 197-204, 2018. (09/08756-1, 12/51799-6, 08/10596-0, 11/23794-7)

VOLPE-AQUINO, ROBERTA M.; MONLLEO, ISABELLA L.; LUSTOSA-MENDES, ELAINE; MORA, AMANDA F.; FETT-CONTE, AGNES C.; FELIX, TEMIS M.; XAVIER, ANA C.; TONOCCHI, RITA; RIBEIRO, ERLANE M.; PEREIRA, RUI; et al. CranFlow: An Application for Record-Taking and Management Through the Brazilian Database on Craniofacial Anomalies. BIRTH DEFECTS RESEARCH, v. 110, n. 1, p. 72-80, JAN 15 2018. (12/51799-6)

DE SOUZA, LAIARA CRISTINA; SGARDIOLI, ILARIA CRISTINA; GIL-DA-SILVA-LOPES, VERA LUCIA; VIEIRA, TARSIS PAIVA. A recognizable phenotype related to 19p13.12 microdeletion. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 176, n. 8, p. 1753-1759, AUG 2018. (12/51799-6)

SGARDIOLI, ILARIA CRISTINA; MONTEIRO, FABIOLA PAOLI; FANTI, PAULO; PAIVA VIEIRA, TARSIS; GIL-DA-SILVA-LOPES, VERA LUCIA. Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health. ORPHANET JOURNAL OF RARE DISEASES, v. 14, JUN 3 2019. (12/51799-6)

SPINELI-SILVA, SAMIRA; BISPO, LUCIANA M.; GIL-DA-SILVA-LOPES, VERA L.; VIEIRA, TARSIS P.. Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review. EUROPEAN JOURNAL OF MEDICAL GENETICS, v. 61, n. 5, p. 262-268, MAY 2018. (12/51799-6)

FONTES, MARSHALL I. B.; SANTOS, ANA P.; MOLCK, MIRIAM C.; SIMIONI, MILENA; NASCIMENTO, DIOGO L. L.; ANDRADE, ANA K. M.; ROSENBERG, CARLA; KREPISCHI, ANA C. V.; APPENZELLER, SIMONE; MONLLEO, ISABELLA L.; et al. Genotype-Phenotype Correlation of 16p13.3 Terminal Duplication and 22q13.33 Deletion: Natural History of a Patient and Review of the Literature. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 170, n. 3, p. 766-772, MAR 2016. (09/00898-1, 12/10071-0, 12/51799-6, 13/08028-1)

LUSTOSA-MENDES, ELAINE; DOS SANTOS, ANA PAULA; VIGUETTI-CAMPOS, NILMA LUCIA; VIEIRA, TARSIS PAIVA; GIL-DA-SILVA-LOPES, VERA LUCIA. A Boy With Partial dup(18q)/del(18p) Due to a Maternal Pericentric Inversion: Genotype-Phenotype Correlation and Risk of Recombinant Chromosomes Based on Systematic Review of the Literature. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 173, n. 1, p. 143-150, JAN 2017. (12/51799-6)

LUSTOSA-MENDES, ELAINE; DOS SANTOS, ANA P.; VIEIRA, TARSIS P.; RIBEIRO, ERLANE M.; REZENDE, ADRIANA A.; FETT-CONTE, AGNES C.; CAVALCANTI, DENISE P.; FELIX, TEMIS M.; MONLLEO, ISABELLA L.; GIL-DA-SILVA-LOPES, VERA LUCIA. Identification of genomic imbalances in oral clefts. Jornal de Pediatria, v. 97, n. 3, p. 321-328, MAY-JUN 2021. (12/51799-6)

GIL-DA-SILVA-LOPES, VERA LUCIA; BARROS FONTES, MARSHALL ITALO; DOS SANTOS, ANA PAULA; APPENZELLER, SIMONE; FETT-CONTE, AGNES CRISTINA; CANO FRANCISQUETTI, MARINA CRISTINE; MONLLEO, ISABELLA LOPES. Syndromic Oral Clefts: Challenges of Genetic Assessment in Brazil and Suggestions to Improve Health Policies. PUBLIC HEALTH GENOMICS, v. 22, n. 1-2, p. 69-75, 2019. (12/51799-6)

DE SOUZA, L. C.; DOS SANTOS, A. P.; SGARDIOLI, I. C.; VIGUETTI-CAMPOS, N. L.; MARQUES PROTA, J. R.; DE OLIVEIRA-SOBRINHO, R. P.; VIEIRA, T. P.; GIL-DA-SILVA-LOPES, V. L.. Phenotype comparison among individuals with developmental delay/intellectual disability with or without genomic imbalances. JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, v. 63, n. 11, p. 1379-1389, NOV 2019. (12/51799-6)

SGARDIOLI, ILARIA CRISTINA; COPELLI, MATHEUS DE MELO; LUSTOSA-MENDES, ELAINE; VIEIRA, TARSIS PAIVA; GIL-DA-SILVA-LOPES, VERA LUCIA. Pure 21q22.3 deletion identified in a patient with mild phenotypic features. CONGENITAL ANOMALIES, v. 58, n. 5, p. 178-180, SEP 2018. (12/51799-6)

CORREIA-COSTA, GABRIELA ROLDAO; DE LEEUW, NICOLE; PFUNDT, ROLPH; SGARDIOLI, ILARIA CRISTINA; DOS SANTOS, ANA PAULA; SANTOS, MARILZA DE LIMA; GIL-DA-SILVA-LOPES, VERA LUCIA; VIEIRA, TARSIS PAIVA. Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration. Clinical Genetics, v. 102, n. 6, p. 6-pg., 2022-09-07. (12/51799-6, 18/08890-9)

GABRIELA ROLDÃO CORREIA-COSTA; ILÁRIA CRISTINA SGARDIOLI; ANA PAULA DOS SANTOS; TÂNIA KAWASAKI DE ARAUJO; RODRIGO SECOLIN; ISCIA LOPES-CENDES; VERA LÚCIA GIL-DA-SILVA-LOPES; TÁRSIS PAIVA VIEIRA. Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis. GENETICS AND MOLECULAR BIOLOGY, v. 45, n. 1, 2022-02-28. (18/08890-9, 12/51799-6)

SGARDIOLI, ILARIA C.; LUSTOSA-MENDES, ELAINE; DOS SANTOS, ANA P.; VIEIRA, TARSIS P.; GIL-DA-SILVA-LOPES, VERA L.. A Rare Case of Concomitant Deletions in 15q11.2 and 19p13.3. Cytogenetic and Genome Research, v. 156, n. 2, p. 80-86, 2018. (12/51799-6)

BARROS FONTES, MARSHALL I.; DOS SANTOS, ANA P.; TORRES, FABIO ROSSI; LOPES-CENDES, ISCIA; CENDES, FERNANDO; APPENZELLER, SIMONE; DE ARAUJO, TANIA KAWASAKI; MONLLEO, ISABELLA LOPES; GIL-DA-SILVA-LOPES, VERA L.. 17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation. MOLECULAR SYNDROMOLOGY, v. 8, n. 1, p. 36-41, 2017. (12/51799-6)