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

Soheila Zareifar,
Hassan Dastsooz,
Mahdi Shahriari,
Mohammad Ali Faghihi,
Golsa Shekarkhar,
Mohammadreza Bordbar,
Omid Reza Zekavat and
Nader ShakibazadEmail author View ORCID ID profile

BMC Medical Genetics201920:122

https://doi.org/10.1186/s12881-019-0855-2

Received: 22 November 2018
Accepted: 26 June 2019
Published: 9 July 2019

Open Peer Review reports

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.