ISSN : 2146-3123
E-ISSN : 2146-3131

Novel Founder Mutation in FANCA Gene (c.3446_3449dupCCCT) Among Romani Patients from the Balkan Region
Marija Dimishkovska 1, Vjosa Mulliqi Kotori 2, Zoran Gucev 3, Svetlana Kocheva 3, Momir Polenakovic 1, Dijana Plaseska-Karanfilska 1
1Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Science and Arts, Skopje, Macedonia
2Department of Endocrinology, Pediatric Clinic, University Clinical Center, Prishtina, Republic of Kosovo
3University Children’s Hospital, Skopje, Macedonia
DOI : 10.4274/balkanmedj.2017.0618

Background: Fanconi anemia (FA) is a rare autosomal recessive or X-linked disorder characterized by clinical and genetic heterogeneity. Most FA patients harbor homozygous or double heterozygous mutations in the FANCA (60-65%), FANCC (10-15%), FANCG (~10%) or FANCD2 (3-6%) genes. We have already reported the FANCA c.190–256_283+1680del2040dupC as a founder mutation among Macedonian FA patients of Gypsy-like ethnic origin. Here we present a novel FANCA mutation in two patients from Macedonia and Kosovo.
Case Report: Novel FANCA c.3446_3449dupCCCT mutation was identified in two FA patients with Romany ethnicity; a 2-year-old girl from Macedonia who is a compound heterozygote for a previously reported FANCA c.190– 256_283+1680del2040dupC and the novel mutation and a 10-year-old girl from Kosovo who is a homozygote for the novel FANCA c.3446_3449dupCCCT mutation. The novel mutation is located in exon 35 in the FAAP20-binding domain that plays a crucial role in the FANCA-FAAP20 interaction and that is required for integrity of the FA pathway.
Conclusion: The finding of FANCA c.3446_3449dupCCCT mutation in two unrelated FA patients with Romani ethnicity from Macedonia and Kosovo suggests it is a founder mutation in the Romani population living in the Balkan region.

Keywords: Fanconi anemia, novel mutation, Balkan region

Keywords : Fanconi anemia, novel mutation, Balkan region
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