FA-C Mutasyon Olan Çocuk Hastada Şiddetli Kulak Anomalisi ve Erken Başlangıçlı Kemik İliği Yetmezliği: Olgu Sunumu

Öz

33 aylık kız hasta solukluk ve halsizlik şikayeti ile başvurdu. Fizik muayenede mikrosefali, auricula displazisi, büyüme geriliği, dismorfik görünümü, iskelet anomalileri vardı. Laboratuar incelemesinde trombositopeni ve anemi saptandı. Mitomisinle uyarılmış kromozom kırılma testinde kromozomal insitabilite gösterildi. Gen sekans analizi ile FA-C mutasyonu belirlendi. Klinik ve laboratuar bulgular ile Fankoni anemisi tanısı konuldu FA-A en yaygın görülen komplementasyon grubudur. FA-C komplementasyon grubu nispeten nadir görülür. Bu makalede nadir görülmesi nedeni ile FA-C mutasyonu olan çocuk hastanın fenotipik özelliklerini bildirmeyi amaçladık.

Anahtar Kelimeler

• Fankoni anemisi,FA-C mutasyonu,fenotip

FA-C Mutation in Children with Severe Ear Anomalies and The Early Onset of Bone Marrow Failure: Case Report

Öz

A thirty-three months old girl presented with palor and fatigue. On clininal examination she had microcephaly, auricular dysplasia, growth retardation, dysmorphic apperance, and skelatal deformities. Laboratory investigation revealed thrombocytopenia and anemia. Mitomycin induced chromosome breakage was detected showing chromosomal instability. FA-C mutation was identified by gene sequencing analysis. Fanconi anemia (FA) was diagnosed with clinical and laboratory findings. FA-A is the most prevalent complementation group. The FA-C complementation group is observed rarely. In this article, we aimed at reporting the phenotypical features of a pediatric patient with FA-C mutation which is relatively rare. 

Anahtar Kelimeler

• Fanconi anemia,FA-C mutation,phenotype

Kaynakça

1. 1. Morgan NV, Essop F, Demuth I, de Ravel T, Jansen S, Tischkowitz M, et al. A common Fanconi anemia mutation in black populations of sub-Saharan Africa. Blood 2005;105:3542–44.
2. 2. Auerbach AD. Fanconi anemia and its diagnosis. Mut Res 2009; 668: 4–10.
3. 3. Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD. The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry. Pediatrics 1993;91:1116-20.
4. 4. Joenje H, Patel KJ. The emerging genetic and molecular basis of Fanconi anaemia. Nat Rev Genet 2001; 2: 446-457.
5. 5. Joenje H. Fanconi anemia complementation groups in Germany and the Netherlands. Hum Genet 1996; 97: 280-82.
6. 6. Savoia A, Zatterale A, Del Principe D, Joenje H. Fanconi anemia in Italy: high prevalence of complementation group A in two geographic clusters. Hum Genet 1996; 97: 599-03.
7. 7. Alter BP.Fanconi anemia and the development of leukemia. Best Pract Res Clin Haematol 2014; 27: 214-21.
8. 8. Verlander PC, Lin JD, Udono MU, Zhang Q, Gibson RA, Mathew CG, et al. Mutation analysis of the Fanconi anemia gene FACC . Am J Hum Genet 1994; 54:595-01.

9. 9. Verlander PC, Kaporis A, Liu Q, Zhang Q, Seligsohn U, Auerbach AD. Carrier frequency of the IVS4 + 4A→T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. Blood 1995; 86: 4034–38.
10. 10. Hucl T, Gallmeier E. DNA repair: exploiting the Fanconi anemia pathway as a potential therapeutic target. Pysiol Res 2011; 60:453-65.
11. 11. Kennedy RD, D'Andrea AD. The Fanconi Anemia/BRCA pathway: new faces in the crowd. Genes Dev 2005; 19:2925-40.
12. 12. Altay C, Alikaşifoglu M, Kara A, Tunçbilek E, Ozbek N, Schroeder-Kurth TM. Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia an dnon-Fanconi anemia): Hacettepe experience. Clin Genet 1997;51:296-02.
13. 13. Yürür Kutlay N, Tuncali T, Ilgın Ruhi H, Karabulut HG, Tukun A.An Evaluation of the Phenotypic Features of Fanconi Anemia Together with DEB/MMC Positivity in 199 Turkish Patients. Turkiye Klinikleri J Med Sci 2013; 33: 1-8.
14. 14. Azık FM, Ileri T, Ince EU, Ertem M, Uysal Z, Gozdasoglu S. Fanconi Anemia: 29 Years Experience in a Single Center. UHOD 2010: 20:201-05.
15. 15. Faivre L, Guardiola P, Lewis C, Dokal I, Ebell W, Zatterale A, et al. Association of complementation group and mutation type with clinical outcome in Fanconi anemia Research Group. Blood 2000; 96:4064-70.
16. 16. Kutler DI, Singh B, Satagopan J, Batish SD, Berwick M, Giampietro PF, et al. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood 2003;101:1249-56.
17. 17. Gillio AP, Verlander PC, Batish SD, Giampietro PF, Auerbach AD. Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study. Blood 1997;90:105-10.
18. 18. Futaki M, Yamashita T, Yagasaki H, Toda T, Yabe M, Kato S, et al. The IVS4+4A to T mutation of the Fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients. Blood 2000;95:1493-98.