CYP26B1 is a member of the cytochrome P450 family and is responsible for the break-down of retinoic acid for which appropriate levels are important for normal development of the cardiovascular and lymphatic systems. In a cohort of 235 patients with lymphatic malformations, we performed genetic testing for the CYP26B1 gene. These probands had previously tested negative for known lymphedema genes. We identified two heterozygous missense CY-P26B1 variants in two patients. Our bioinformatic study suggested that alterations caused by these variants have no major effect on the overall stability of CYP26B1 protein structure. Balanced levels of retinoic acid maintained by CYP26B1 are crucial for the lymphatic system. We identified that CYP26B1 could be involved in predisposition for lymphedema. We propose that CYP26B1 be further explored as a new candidate gene for genetic testing of lymphedema patients.
CYP26B1 and its implications in lymphangiogenesis: Literature review and study of rare variants in two families / Ricci, M; Serrani, R; Amato, B; Compagna, R; Veselenyiova, D; Kenanoglu, S; Kurti, D; Baglivo, M; Krajcovic, J; Miggiano, G A D; Aquilanti, B; Matera, G; Velluti, V; Gagliardi, L; Dundar, M; Basha, S H; Bertelli, M. - In: LYMPHOLOGY. - ISSN 0024-7766. - 53:1(2020), pp. 20-28.
CYP26B1 and its implications in lymphangiogenesis: Literature review and study of rare variants in two families
Amato, B;Compagna, R;
2020
Abstract
CYP26B1 is a member of the cytochrome P450 family and is responsible for the break-down of retinoic acid for which appropriate levels are important for normal development of the cardiovascular and lymphatic systems. In a cohort of 235 patients with lymphatic malformations, we performed genetic testing for the CYP26B1 gene. These probands had previously tested negative for known lymphedema genes. We identified two heterozygous missense CY-P26B1 variants in two patients. Our bioinformatic study suggested that alterations caused by these variants have no major effect on the overall stability of CYP26B1 protein structure. Balanced levels of retinoic acid maintained by CYP26B1 are crucial for the lymphatic system. We identified that CYP26B1 could be involved in predisposition for lymphedema. We propose that CYP26B1 be further explored as a new candidate gene for genetic testing of lymphedema patients.File | Dimensione | Formato | |
---|---|---|---|
CYP26B1 AND ITS IMPLICATIONS IN LYMPHANGIOGENESIS REVIEW OF THE LITERATURE AND STUDY OF RARE VARIANTS IN TWO FAMILIES.PDF
non disponibili
Tipologia:
Documento in Post-print
Licenza:
Accesso privato/ristretto
Dimensione
973.04 kB
Formato
Adobe PDF
|
973.04 kB | Adobe PDF | Visualizza/Apri Richiedi una copia |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.