Investigative approach in cleft lip and palate and congenital cadiopathy related to 22q11.2 deletion syndrome using open array and aGH techniques

• Grant number: 11/23794-7
• Support Opportunities: Regular Research Grants
• Start date: August 01, 2012
• End date: January 31, 2015
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• 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

Cleft lip and palate (CLP) occurs in 1:600 to 1000 births and most common form is isolated. The 22q11.2 Deletion Syndrome (22q11.2 Del S.) has a prevalence of 1:2.000 to 7.000 births and it is characterized by multiple anomalies, including cardiac anomalies and oral clefts. The present study aims to investigate: 1) association between 243 tagging SNPs in 38 candidate genes to isolated CLP based on a case-control study (total of 525 individuals), using the Open Array technique, 2) investigate the presence of copy number variations (CNVs) in patients with clinical suspicious of 22q11.2 Del S., confirm or not by laboratorial techniques, that presents cardiopathys related to it, using the array Genomic Hybridization (aGH) methodology by CytoScan HD chip, Affymetrix® (about 200 cases). This is a complementary study from previously projects of the same research group (FAPESP n.2008/50421-4, and 2009/08756-1, 2008/105960), using the information collected using the standardized protocol developed by the Clinical and Family Brazilian Database of Typical Orofacial Clefts (DB) and clinical protocol to investigate the 22q11.2 Del S. Control group consists of healthy subjects without CLP in three generations, whose DNA samples have been already stored. This research is justified for the following reasons: 1. Identification of the genetic contribution in the isolated CLP in Brazilian population through Open Array technique, 2. Description of the importance of CNVs and 22q11.2 deletion in the genesis of 22q11.2 Del S. and specific cardiac anomalies. If necessary, additional techniques will be used to confirm the results. Initially, data analysis will be descriptive. This study probably will suggest areas for further research, or will even detect new genes associated with cleft lip and palate and 22q11.2 Del S and cardiopathy. (AU)

Scientific publications

(16)

(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)

MOLCK, MIRIAM COELHO; VIEIRA, TARSIS PAIVA; SIMIONI, MILENA; SGARDIOLI, ILARIA CRISTINA; DOS SANTOS, ANA PAULA; XAVIER, ANA CAROLINA; GIL-DA-SILVA-LOPES, VERA LUCIA. Distal 22q11.2 Microduplication Combined With Typical 22q11.2 Proximal Deletion: A Case Report. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 167, n. 1, p. 215-220, JAN 2015. (11/23794-7, 09/08756-1, 08/10596-0)

MOLCK, MIRIAM C.; MONTEIRO, FABIOLA P.; SIMIONI, MILENA; GIL-DA-SILVA-LOPES, VERA L.. 8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome. JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS, v. 36, n. 7, p. 544-548, SEP 2015. (11/23794-7, 09/08756-1, 08/10596-0)

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)

SIMIONI, MILENA; MONLLEO, ISABELLA LOPES; COSTA DE QUEIROZ, CAMILA M.; PEIXOTO GAZZANEO, ILANNA FRAGOSO; LIMA DO NASCIMENTO, DIOGO L.; DE OMENA FILHO, REINALDO LUNA; DA CRUZ PIVETA, CRISTIANE SANTOS; DE MELLO, MARICILDA PALANDI; GIL-DA-SILVA-LOPES, VERA L.. A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis. SEXUAL DEVELOPMENT, v. 10, n. 1, p. 23-27, 2016. (11/23794-7)

DE ARAUJO, TANIA KAWASAKI; LUSTOSA-MENDES, ELAINE; DOS SANTOS, ANA P.; MOLCK, MIRIAM COELHO; VOLPE-AQUINO, ROBERTA MAZZARIOL; GIL-DA-SILVA-LOPES, VERA L.. ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature. MOLECULAR SYNDROMOLOGY, v. 8, n. 4, p. 201-205, 2017. (11/23794-7)

BARBOSA, FERNANDA BUENO; SIMIONI, MILENA; VIEIRA WIEZEL, CLAUDIA EMILIA; TORRES, FABIO ROSSI; MOLCK, MIRIAM COELHO; BONILLA, MELVIN M.; DE ARAUJO, TABIA KAWASAKI; DONADI, EDUARDO ANTONIO; GIL-DA-SILVA-LOPES, VERA LUCIA; LEMOS, BERNARDO; et al. Copy number variation in the susceptibility to systemic lupus erythematosus. PLoS One, v. 13, n. 11, NOV 28 2018. (11/23794-7, 13/17062-9, 16/10306-8)

MOLCK, MIRIAM COELHO; SIMIONI, MILENA; VIEIRA, TARSIS PAIVA; SGARDIOLI, ILARIA CRISTINA; MONTEIRO, FABIOLA PAOLI; SOUZA, JOSIANE; FETT-CONTE, AGNES CRISTINA; FELIX, TEMIS MARIA; MONLLEO, ISABELLA LOPES; GIL-DA-SILVA-LOPES, VERA LUCIA. Genomic imbalances in syndromic congenital heart disease. Jornal de Pediatria, v. 93, n. 5, p. 497-507, SEP-OCT 2017. (11/23794-7, 09/08756-1, 08/10596-0)

ZAMARIOLLI, MALU; BURSSED, BRUNA; MOYSES-OLIVEIRA, MARIANA; COLOVATI, MILENY; BELLUCCO, FERNANDA TEIXEIRA DA SILVA; DOS SANTOS, LEONARDO CAIRES; ALVAREZ PEREZ, ANA BEATRIZ; BRAGAGNOLO, SILVIA; MELARAGNO, MARIA ISABEL. Novel MYT1 variants expose the complexity of oculo-auriculo-vertebral spectrum genetic mechanisms. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 185, n. 7, APR 2021. (14/11572-8, 11/23794-7)

SIMIONI, MILENA; ARTIGUENAVE, FRANCOIS; VIGUETTI-CAMPOS, NILMA; GIL-DA-SILVA-LOPES, VERA L.. Molecular mechanisms related to abnormal phenotype of balanced chromosome rearrangements carriers. Chromosome Research, v. 23, p. 2-pg., 2015-06-01. (11/23794-7, 12/10071-0)

MIRIAM COELHO MOLCK; MILENA SIMIONI; TÁRSIS PAIVA VIEIRA; ILÁRIA CRISTINA SGARDIOLI; FABÍOLA PAOLI MONTEIRO; JOSIANE SOUZA; AGNES CRISTINA FETT-CONTE; TÊMIS MARIA FÉLIX; ISABELLA LOPES MONLLÉO; VERA LÚCIA GIL-DA-SILVA-LOPES. Desequilíbrios genômicos na cardiopatia congênita sindrômica,. Jornal de Pediatria, v. 93, n. 5, p. 497-507, 2017-10-00. (08/10596-0, 11/23794-7, 09/08756-1)

SIMIONI, MILENA; ARTIGUENAVE, FRANCOIS; MEYER, VINCENT; SGARDIOLI, ILARIA C.; VIGUETTI-CAMPOS, NILMA L.; MONLLEO, ISABELLA LOPES; MACIEL-GUERRA, ANDREA T.; STEINER, CARLOS E.; GIL-DA-SILVA-LOPES, VERA L.. Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes. MOLECULAR SYNDROMOLOGY, v. 8, n. 4, p. 187-194, 2017. (11/23794-7, 12/10071-0)

SIMIONI, MILENA; STEINER, CARLOS EDUARDO; GIL-DA-SILVA-LOPES, VERA LUCIA. De novo double reciprocal translocations in addition to partial monosomy at another chromosome: A very rare case. Gene, v. 573, n. 1, p. 166-170, NOV 15 2015. (11/23794-7, 12/10071-0)

BARBOSA, FERNANDA B.; CAGNIN, NATALIA F.; SIMIONI, MILENA; FARIAS, ALLYSSON A.; TORRES, FABIO R.; MOLCK, MIRIAM C.; ARAUJO, TANIA K.; GIL-DA-SILVA-LOPES, VERA L.; DONADI, EDUARDO A.; SIMOES, AGUINALDO L.. Ancestry Informative Marker Panel to Estimate Population Stratification Using Genome-wide Human Array. ANNALS OF HUMAN GENETICS, v. 81, n. 6, p. 225-233, NOV 2017. (11/23794-7, 13/17062-9)

BARBOSA, F. B.; SIMIONI, M.; BONILLA, M. M.; TORRES, F. R.; MOLCK, M. C.; ARAUJO, T. K.; DONADI, E. A.; GIL-DA-SILVA-LOPES, V. L.; LEMOS, B.; SIMOES, A. L.. Rare copy number variations in patients with systemic lupus erythematosus. European Journal of Human Genetics, v. 26, p. 1-pg., 2018-10-01. (13/17062-9, 11/23794-7, 16/10306-8)

BARBOSA, FERNANDA BUENO; SIMIONI, MILENA; TORRES, FABIO ROSSI; DONADI, EDUARDO ANTONIO; GIL-DA-SILVA-LOPES, VERA LUCIA; SIMOES, AGUINALDO LUIZ. Copy-neutral loss of heterozygosity pattern in systemic lupus erythematosus. Chromosome Research, v. 23, p. 1-pg., 2015-06-01. (13/17062-9, 11/23794-7)