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

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

SUBMITTER: Zareifar S 

PROVIDER: S-EPMC6617641 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature