publication . Article . 2018

Novel Founder Mutation in FANCA Gene (c.3446_3449dupCCCT) Among Romani Patients from the Balkan Region

Marija Dimishkovska; Vjosa Mulliqi Kotori; Zoran Gucev; Svetlana Kocheva; Momir Polenakovic; Dijana Plaseska-Karanfilska;
Open Access English
  • Published: 01 Feb 2018 Journal: Balkan Medical Journal, volume 35, issue 1, pages 108-111 (issn: 2146-3123, eissn: 2146-3131, Copyright policy)
  • Publisher: Galenos Publishing
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 Gypsy-like 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...
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Subjects
Medical Subject Headings: hemic and lymphatic diseasescongenital, hereditary, and neonatal diseases and abnormalitiesnutritional and metabolic diseases
free text keywords: Case Report, Fanconi anemia, mutation, Balkan region, lcsh:Medicine, lcsh:R, Genetics, FANCD2, Biology, Compound heterozygosity, FANCG, medicine.disease, medicine, FANCA, Population, education.field_of_study, education, Dominance (genetics), Founder effect
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