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 language | English (US) |
|---|---|
| Article number | 122 |
| Journal | BMC medical genetics |
| Volume | 20 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jul 9 2019 |
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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 journal › Article
}
TY - JOUR
T1 - A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia
T2 - A case report
AU - Zareifar, Soheila
AU - Dastsooz, Hassan
AU - Shahriari, Mahdi
AU - Faghihi, Mohammad A
AU - Shekarkhar, Golsa
AU - Bordbar, Mohammadreza
AU - Zekavat, Omid Reza
AU - Shakibazad, Nader
PY - 2019/7/9
Y1 - 2019/7/9
N2 - 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.
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.
KW - Autosomal recessive Fanconi Anemia
KW - FANCF
KW - NGS
KW - Novel mutation
UR - http://www.scopus.com/inward/record.url?scp=85068821037&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85068821037&partnerID=8YFLogxK
U2 - 10.1186/s12881-019-0855-2
DO - 10.1186/s12881-019-0855-2
M3 - Article
C2 - 31288759
AN - SCOPUS:85068821037
VL - 20
JO - BMC Medical Genetics
JF - BMC Medical Genetics
SN - 1471-2350
IS - 1
M1 - 122
ER -