A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: A case report

Soheila Zareifar, Hassan Dastsooz, Mahdi Shahriari, Mohammad A Faghihi, Golsa Shekarkhar, Mohammadreza Bordbar, Omid Reza Zekavat, Nader Shakibazad

Research output: Contribution to journalArticle

Abstract

Background: Fanconi 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 presentation: Here, 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. Conclusion: 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 (pancytopenia), short stature, and microcephaly and skin hyperpigmentation. Until now, no evidence of malignancy was detected.

Original languageEnglish (US)
Article number122
JournalBMC medical genetics
Volume20
Issue number1
DOIs
StatePublished - Jul 9 2019

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Fanconi Anemia
Microcephaly
Hyperpigmentation
Inborn Genetic Diseases
Genes
Mutation
Bone Marrow
Skin
Pancytopenia
Frameshift Mutation
Genetic Association Studies
Marriage
DNA Repair
Thrombocytopenia
Anemia
Neoplasms

Keywords

  • Autosomal recessive Fanconi Anemia
  • FANCF
  • NGS
  • Novel mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia : A case report. / Zareifar, Soheila; Dastsooz, Hassan; Shahriari, Mahdi; Faghihi, Mohammad A; Shekarkhar, Golsa; Bordbar, Mohammadreza; Zekavat, Omid Reza; Shakibazad, Nader.

In: BMC medical genetics, Vol. 20, No. 1, 122, 09.07.2019.

Research output: Contribution to journalArticle

Zareifar, S, Dastsooz, H, Shahriari, M, Faghihi, MA, Shekarkhar, G, Bordbar, M, Zekavat, OR & Shakibazad, N 2019, 'A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: A case report', BMC medical genetics, vol. 20, no. 1, 122. https://doi.org/10.1186/s12881-019-0855-2
Zareifar, Soheila ; Dastsooz, Hassan ; Shahriari, Mahdi ; Faghihi, Mohammad A ; Shekarkhar, Golsa ; Bordbar, Mohammadreza ; Zekavat, Omid Reza ; Shakibazad, Nader. / A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia : A case report. In: BMC medical genetics. 2019 ; Vol. 20, No. 1.
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AB - Background: Fanconi 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 presentation: Here, 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. Conclusion: 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 (pancytopenia), short stature, and microcephaly and skin hyperpigmentation. Until now, no evidence of malignancy was detected.

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