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Novel Founder Mutation in FANCA Gene (c.3446_3449dupCCCT) Among Romani Patients from the Balkan Region.
- Source :
- Balkan Medical Journal; Jan2018, Vol. 35 Issue 1, p108-111, 4p
- Publication Year :
- 2018
-
Abstract
- Background: Fanconi anemia is a rare autosomal recessive or X-linked disorder characterised by clinical and genetic heterogeneity. Most fanconi anemia patients harbour 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 variant c.190- 256_283+1680del2040dupC as a founder mutation among Macedonian fanconi anemia patients of Gypsylike ethnic origin. Here, we present a novel FANCA mutation in two patients from Macedonia and Kosovo. Case Report: The novel FANCA mutation c.3446_3449dupCCCT was identified in two fanconi anemia 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 which plays a crucial role in the FANCAFAAP20 interaction and is required for integrity of the fanconi anemia pathway. Conclusion: The finding of the 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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 21463123
- Volume :
- 35
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- Balkan Medical Journal
- Publication Type :
- Academic Journal
- Accession number :
- 129061784
- Full Text :
- https://doi.org/10.4274/balkanmedj.2017.0618