Abstract
BackgroundFanconi anemia (FA) is a heterogeneous genetic disorder characterized by congenital anomalies, early-onset bone marrow failure, and a high predisposition to cancers. Up to know, different genes involved in the DNA repair pathway, mainly FANCA genes, have been identified to be affected in patients with FA.Case presentationHere, we report clinical, laboratory and genetic findings in a 3.5-year-old Iranian female patient, a product of a consanguineous marriage, who was suspicious of FA, observed with short stature, microcephaly, skin hyperpigmentation, anemia, thrombocytopenia and hypo cellular bone marrow. Therefore, Next Generation Sequencing was performed to identify the genetic cause of the disease in this patient. Results revealed a novel, private, homozygous frameshift mutation in the FANCF gene (NM_022725: c. 534delG, p. G178 fs) which was confirmed by Sanger sequencing in the proband.ConclusionSuch studies may help uncover the exact pathomechanisms of this disorder and establish the genotype-phenotype correlations by identification of more mutations in this gene. It is the first report of a mutation in the FANCF gene in Iranian patients with Fanconi anemia. This new mutation correlates with a hematological problem (pancytopenia), short stature, and microcephaly and skin hyperpigmentation. Until now, no evidence of malignancy was detected.
Highlights
Fanconi anemia (FA) is a heterogeneous genetic disorder characterized by congenital anomalies, early-onset bone marrow failure, and a high predisposition to cancers
Such studies may help uncover the exact pathomechanisms of this disorder and establish the genotype-phenotype correlations by identification of more mutations in this gene. It is the first report of a mutation in the FANCF gene in Iranian patients with Fanconi anemia
This new mutation correlates with a hematological problem, short stature, and microcephaly and skin hyperpigmentation
Summary
Fanconi anemia (FA) is a heterogeneous genetic disorder characterized by congenital anomalies, early-onset bone marrow failure, and a high predisposition to cancers. Fanconi anemia (FA) is a clinically and genetically heterogeneous uncommon autosomal recessive disorder with hallmarks of congenital malformations, early-onset bone marrow failure, and a high susceptibility to malignancies due to genomic instability [1, 2]. 22 FANC genes have been identified among which FANCA mutations, known as hyper-mutable genes, have been reported to be the most common genetic causes of FA patients. The confirmation of FA diagnosis in a proband should be considered with the following examination: Firstly, cytogenetic examination with increased levels of chromosomal breaks and radial formation on lymphocytes after exposure to Diepoxybutane (DEB) or Mitomycin C (MMC) and secondly, identification of pathogenic mutations in one of the 22 FA genes [3,4,5].The aim of our study was to discover the mutated genes in an affected Iranian patient with FA using Generation Sequencing (NGS).
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