A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing

Italian Journal of Pediatrics

Soo Hyun Seo¹  Dodam Seol¹  Sung Sup Park¹  Moon-Woo Seong¹  Seung Jun Lee¹  Alph S Shirley²  Godfred A Menezes³  Revathy Ramalingam⁴  Ramya Rajendran²  Priya Margaret²  Ponnumony John Solomon² 

[1] Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea;Department of Paediatrics, Sree Balaji Medical College and Hospital, Chennai 600 044, India;Worked previously as in-charge and scientist in Central Research Laboratory (CRL), Sree Balaji Medical College and Hospital, Chennai 600 044, India;Department of Physiology/Central research laboratory (CRL), Sree Balaji Medical College and Hospital, Chennai 600 044, India

关键词: Mutations;    FANCA gene;    FANC genes;    Fanconi Anemia;    Anemia;   

Others  :  1204467
DOI  :  10.1186/s13052-015-0142-6

 received in 2015-01-27, accepted in 2015-04-22,  发布年份 2015

【 摘 要 】

Fanconi anemia (FA) is a genetically heterogeneous rare autosomal recessive disorder characterized by congenital malformations, hematological problems and predisposition to malignancies. The genes that have been found to be mutated in FA patients are called FANC. To date 16 distinct FANC genes have been reported. Among these, mutations in FANCA are the most frequent among FA patients worldwide which account for 60- 65%. In this study, a nine years old male child was brought to our hospital one year ago for opinion and advice. He was the third child born to consanguineous parents. The mutation analyses were performed for proband, parents, elder sibling and the relatives [maternal aunt and maternal aunt’s son (cousin)]. Molecular genetic testing [targeted next-generation sequencing (MiSeq, Illumina method)] was performed by mutation analysis in 15 genes involved. Entire coding exons and their flanking regions of the genes were analysed. Sanger sequencing [(ABI 3730 analyzer by Applied Biosystems)] was performed using primers specific for 43 coding exons of the FANCA gene. A novel splice site mutation, c.3066 + 1G > T, (IVS31 + 1G > T), homozygote was detected by sequencing in the patient. The above sequence variant was identified in heterozygous state in his parents. Further, the above sequence variant was not identified in other family members (elder sibling, maternal aunt and cousin). It is concluded that genetic study should be done if possible in all the cases of suspected FA, including siblings, parents and close blood relatives. It will help us to plan appropriate treatment and also to select suitable donor for hematopoietic stem cell transplantation and to plan for genetic counseling. In addition to the case report, the main focus of this manuscript was to review literature on role of FANCA gene in FA since large number of FANCA mutations and polymorphisms have been identified.

【 授权许可】

   
2015 Solomon et al.; licensee BioMed Central.

【 图 表 】

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