Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate

• Published in: Human mutation Vol. 27; no. 3; p. 294
• Main Authors: Martinelli, Marcella, Scapoli, Luca, Palmieri, Annalisa, Pezzetti, Furio, Baciliero, Ugo, Padula, Ernesto, Carinci, Paolo, Giovanni Morselli, Paolo, Carinci, Francesco
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.03.2006; Hindawi Limited
• Subjects: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase - genetics; Alleles; Cleft Lip - genetics; cleft lip with or without cleft palate; Cleft Palate - genetics; Ferredoxin-NADP Reductase - genetics; Folic Acid - metabolism; Gene Expression Regulation; Genetic Markers; Genetic Predisposition to Disease; Humans; MTR; MTRR; orofacial cleft; Polymorphism, Genetic; Polymorphism, Single Nucleotide; TCN1; TCN2; Transcobalamins - genetics

Cleft lip with or without cleft palate (CL/P) is the most common inborn craniofacial anomaly. Affected individuals require extensive medical and psychosocial support. Although CL/P has a complex and poorly understood etiology, increasing evidence of folate pathway involvement has been collected. So...