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Nicchia E.,University of Trieste | Benedicenti F.,Regional Hospital of Bolzano | Rocco D.D.,Institute for Maternal and Child Health | Greco C.,Institute for Maternal and Child Health | And 11 more authors.
Birth Defects Research Part A - Clinical and Molecular Teratology | Year: 2015

Background: Fanconi anemia (FA) is a rare genetic disease characterized by congenital malformations, aplastic anemia and increased risk of developing malignancies. FA is genetically heterogeneous as it is caused by at least 17 different genes. Among these, FANCA, FANCC, and FANCG account for approximately 85% of the patients whereas the remaining genes are mutated in only a small percentage of cases. For this reason, the molecular diagnostic process is complex and not always extended to all the FA genes, preventing the characterization of individuals belonging to rare groups. Methods: The FA genes were analyzed using a next generation sequencing approach in two unrelated families. Results: The analysis identified the same, c.484_485del, homozygous mutation of FANCF in both families. A careful examination of three electively aborted fetuses in one family and one affected girl in the other indicated an association of the FANCF loss-of-function mutation with a severe phenotype characterized by multiple malformations. Conclusion: The systematic use of next generation sequencing will allow the recognition of individuals from rare complementation groups, a better definition of their clinical phenotypes, and consequently, an appropriate genetic counseling. Birth Defects Research (Part A) 103:1003-1010, 2015. © 2015 Wiley Periodicals, Inc.


PubMed | G Gaslini Childrens Hospital, Regional Hospital of Bolzano, University of Trieste, Human Genetics Laboratory Eo Ospedali Galliera and Institute for Maternal and Child Health IRCCS Burlo Garofolo
Type: Case Reports | Journal: Birth defects research. Part A, Clinical and molecular teratology | Year: 2015

Fanconi anemia (FA) is a rare genetic disease characterized by congenital malformations, aplastic anemia and increased risk of developing malignancies. FA is genetically heterogeneous as it is caused by at least 17 different genes. Among these, FANCA, FANCC, and FANCG account for approximately 85% of the patients whereas the remaining genes are mutated in only a small percentage of cases. For this reason, the molecular diagnostic process is complex and not always extended to all the FA genes, preventing the characterization of individuals belonging to rare groups.The FA genes were analyzed using a next generation sequencing approach in two unrelated families.The analysis identified the same, c.484_485del, homozygous mutation of FANCF in both families. A careful examination of three electively aborted fetuses in one family and one affected girl in the other indicated an association of the FANCF loss-of-function mutation with a severe phenotype characterized by multiple malformations.The systematic use of next generation sequencing will allow the recognition of individuals from rare complementation groups, a better definition of their clinical phenotypes, and consequently, an appropriate genetic counseling.

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