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Investigating the spectrum of genome copy number variations in individuals with microcephaly or macrocephaly phenotypes

Grant number: 20/15552-2
Support Opportunities:Scholarships in Brazil - Scientific Initiation
Effective date (Start): February 01, 2021
Effective date (End): July 31, 2022
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:Ana Cristina Victorino Krepischi
Grantee:Giovanna Civitate Bastos
Host Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil


Microcephaly and macrocephaly are pathological phenotypes mainly resulting from changes in cranial size/volume. These changes may be a consequence of environmental factors, such as intrauterine or congenital infections, teratogenic exposures or vascular injuries, as well as driven by genetic causes, which include mutations in single genes, copy number variations (CNVs), and major structural chromosomal rearrangements and aneuploidies. With the emergence of molecular techniques for chromosomal analysis, such as chromosomal microarray analysis (CMA), the importance of the contribution of CNVs to human phenotypic variability, from the spectrum of normal variability to disease phenotypes, has become evident. It is estimated that approximately 20% of the cases of genetic congenital diseases have a causal association with pathogenic CNVs, especially those related to neurodevelopmental disorders, including the aforementioned phenotypes of microcephaly and macrocephaly. In addition to performing a literature review on the subject, we will seek to explore the genetic heterogeneity associated with the microcephaly and macrocephaly. We intend to delineate the spectrum of genomic loci in which CNVs occur in association with these phenotypes, by investigating patients whose clinical and phenotypic data are deposited in the public database DECIPHER, which has more than 37,200 records; and also compiling over 3,000 cases from the Human Genetics Laboratory of the Institute of Biosciences (USP) previously investigated by CMA.

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