Amish, Mennonite, and Hutterite
Genetic Disorder Database

Fanconi anemia, complementation group C

Disorder
OMIM #: #227645  (Click to access OMIM database)
Disorder: Fanconi anemia, complementation group C 
Also known as: Fanconi pancytopenia, type 3 
Clinical
Phenotype: DNA instability disorder, developmental abnormalities, bone marrow failure, cancer predisposition, 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Colony Mennonite, Unknown / Other Mennonite  
Gene: FANCC
Base Change: c.67delG
Amino Acid Change: p.Asp23Ilefs*23
Last updated: 2019-05-09 

References
de Vries Y, Lwiwski N, Levitus M, Kuyt B, Israels SJ, Arwert F, Zwaan M, Greenberg CR, Alter BP, Joenje H, Meijers-Heijboer H. (2012) A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites. Anemia 2012:865170.
PubMed ID: 22701786 
García-de Teresa B, Frias S, Molina B, Villarreal MT, Rodriguez A, Carnevale A, López-Hernández G, Vollbrechtshausen L, Olaya-Vargas A, Torres L. (2019) FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México. Mol Genet Genomic Med May 1:e710.
PubMed ID: 31044565 
Verlander PC, Lin JD, Udono MU, Zhang Q, Gibson RA, Mathew CG, Auerbach AD. (1994) Mutation analysis of the Fanconi anemia gene FACC. Am J Hum Genet Apr;54(4):595-601.
PubMed ID: 8128956 

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