Study of CYP26B1 gene in two families with affected presenting distinct phenotypes potentially related to retinoic acid degradation

• Grant number: 15/14866-5
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: October 01, 2015
• End date: September 30, 2016
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Denise Pontes Cavalcanti
• Grantee: Aline Raduan Iacovone
• Host Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Abstract

The CYP26B1 gene is responsible for the retinoic acid (RA) metabolization whose role in the embryonic development is particularly important in the skeletogenesis and, mainly in the axial skeleton and in the craniofacial region. As demonstrated in animal models, mutations in this gene generate an increasing of RA in the embryo affecting the normal organogenesis and producing several malformations - primarily in the limbs and in the craniofacial region. Recently, homozygous mutations in CYP26B1 have been described in association with complex malformations in two patients born from consanguineous parents. Furthermore, phocomelia was associated with null mutations in animal models. However, none other patient presenting mutations in this gene is known so far and the rarity of the associated phenotype could be the explanation. In this sense, this project was designed to verify the hypothesis that mutations in this gene could be present in two families whose babies are affected by malformations that can be due to changes in the RA metabolism.