Advanced search
Start date
Betweenand

Investigation of the cytogenomic profile in 22q11.2 deletion carriers: CNVs x gene expression and immunophenotypic variability

Grant number: 17/08981-1
Support type:Scholarships in Brazil - Post-Doctorate
Effective date (Start): September 01, 2017
Effective date (End): August 31, 2020
Field of knowledge:Health Sciences - Medicine
Principal researcher:Leslie Domenici Kulikowski
Grantee:Marília Moreira Montenegro
Home Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil
Associated research grant:14/50489-9 - Human thymus: development and diseases, AP.TEM

Abstract

22q11.2 deletion syndrome is a spectrum disorder that includes conditions formerly called DiGeorge syndrome; velocardiofacial syndrome; conotruncal anomaly face syndrome and Cayler cardiofacial syndrome. The frequency of the 22q11.2 deletion is of approximately 1:4000 livebirths. The clinical features are highly variable and include a variety of congenital anomalies, medical problems, and cognitive and neuropsychological difficulties, including facial dysmorphism, thymus absence, hypoparathyroidism, cellular immunodeficiency, cardiac abnormalities, expressive language delays, gross and fine motor difficulties and psychiatric disorders. All of which caused by recurrent copy number changes in high-homology sequences called low copy repeats (LCR). These LCRs are >96% identical, thereby making the locus vulnerable to meiotic error. Individuals present mostly the two largest repeats, LCR22A and LCR22D, that flank the typical 3-Mb (A-D) 22q11.2 region deletion, while 8-10% have a nested 1.5-Mb (A-B) deletion, and individuals with atypical deletions have also been reported. It is generally accepted that >90% of proximal deletions are de novo, whereas for an inherited deletion, the risk of transmission is 50%. Higher-order chromatin structure is an important regulator of gene expression. Structural variation, whether it is caused by copy number variants or present in a balanced form can have a profound and dramatic effect on the expression of genes. Our goal is to build a cytogenomic profile by analyzing SNPs from whole genome and evaluate gene expression in 22q11.2 deletion carriers with immunephenotypic variations and to perform a genotype-phenotype correlation for these patients.

News published in Agência FAPESP Newsletter about the scholarship:
Articles published in other media outlets (0 total):
More itemsLess items
VEICULO: TITULO (DATA)
VEICULO: TITULO (DATA)

Scientific publications
(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)
MONTENEGRO, MARILIA M.; QUAIO, CAIO R.; PALMEIRA, PATRICIA; GASPARINI, YANCA; RANGEL-SANTOS, ANDREIA; DAMASCENO, JULIAN; NOVAK, ESTELA M.; GIMENEZ, THAMIRES M.; YAMAMOTO, GUILHERME L.; RONJO, RACHEL S.; NOVO-FILHO, GIL M.; CHEHIMI, SAMAR N.; ZANARDO, EVELIN A.; DIAS, ALEXANDRE T.; NASCIMENTO, AMOM M.; COSTA, THAIS V. M. M.; DUARTE, ALBERTO J. DA S.; COUTINHO, LUIZ L.; KIM, CHONG A.; KULIKOWSKI, LESLIE D. Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases. MOLECULAR GENETICS & GENOMIC MEDICINE, FEB 2020. Web of Science Citations: 0.

Please report errors in scientific publications list by writing to: cdi@fapesp.br.