Contributions
Abstract: PB1482
Type: Publication Only
Session title: Bone marrow failure syndromes incl. PNH - Clinical
Background
Fanconi anemia is mainly an autosomal recessive syndrome and more than 60% of the patients have physical anomalies. In the follow-up of the patients, bone marrow failure, AML and solid tumors develop. Pathological changes have been identified in at least 22 genes. FANCA 60%, FANCC 14% and FANCG 10% genes have been identified most frequently. VATER association, in its broader form, is an abbreviation of VACTERL or VACTERL-H, vertebral anomaly, anal atresia, cardiac anomalies, trecea-esophageal fistula, renal anomaly, extremity (radius and thumb) anomaly and hydrocephalus. It is a disease defined by a combination of three or more. It is seen sporadically and its frequency is reported as one in ten thousand or forty thousand in the general population. The probability of being diagnosed with Fanconi anemia simultaneously or later with VACTERL-H association has been reported to be 5-30%. In these patients, the risk of early-onset midline brain tumors, Wilms' tumors and AML is greatly increased.
Aims
Our aim is to investigate the phenotype-genotype relationship of our patients with Fanconi anemia.
Methods
In our department, the phenotype-genotype relationship was investigated by studying the genetic mutations of patients diagnosed with Fanconi anemia with clinical, laboratory and mitomycin C test positivity. Our patients were evaluated especially in terms of VACTERL-H association.
Results
Mutations were detected in 14 patients out of 40 Fanconi anemia followed in our clinic. Four of our patients were male and other was female. Their age was between 2-21 and the median age was 10. Two siblings were identified in three families. Mutations were detected in the FANCA gene of 13 patients. Compound heterozygosity was detected in four patients, large homozygous deletion in six patients, and homozygous missense mutation in three patients. Eleven different pathological alleles were shown in the FANCA gene. In a patient with VACTERL-H association, c.2504 + 1G> C homozygous mutation was found in the FANCG gene.
Conclusion
Fanconi anemia is common in our country. However, genotype determination studies have started in recent years. Fanconi anemia are the results of this study genotype the first reported from Turkey. By obtaining genotype results in more of our patients, the frequency of Fanconi genotype in our country should be determined and its relation with phenotype should be investigated. In addition, patients with VACTERL-H association should be evaluated in terms of Fanconi anemia.
Keyword(s):
Abstract: PB1482
Type: Publication Only
Session title: Bone marrow failure syndromes incl. PNH - Clinical
Background
Fanconi anemia is mainly an autosomal recessive syndrome and more than 60% of the patients have physical anomalies. In the follow-up of the patients, bone marrow failure, AML and solid tumors develop. Pathological changes have been identified in at least 22 genes. FANCA 60%, FANCC 14% and FANCG 10% genes have been identified most frequently. VATER association, in its broader form, is an abbreviation of VACTERL or VACTERL-H, vertebral anomaly, anal atresia, cardiac anomalies, trecea-esophageal fistula, renal anomaly, extremity (radius and thumb) anomaly and hydrocephalus. It is a disease defined by a combination of three or more. It is seen sporadically and its frequency is reported as one in ten thousand or forty thousand in the general population. The probability of being diagnosed with Fanconi anemia simultaneously or later with VACTERL-H association has been reported to be 5-30%. In these patients, the risk of early-onset midline brain tumors, Wilms' tumors and AML is greatly increased.
Aims
Our aim is to investigate the phenotype-genotype relationship of our patients with Fanconi anemia.
Methods
In our department, the phenotype-genotype relationship was investigated by studying the genetic mutations of patients diagnosed with Fanconi anemia with clinical, laboratory and mitomycin C test positivity. Our patients were evaluated especially in terms of VACTERL-H association.
Results
Mutations were detected in 14 patients out of 40 Fanconi anemia followed in our clinic. Four of our patients were male and other was female. Their age was between 2-21 and the median age was 10. Two siblings were identified in three families. Mutations were detected in the FANCA gene of 13 patients. Compound heterozygosity was detected in four patients, large homozygous deletion in six patients, and homozygous missense mutation in three patients. Eleven different pathological alleles were shown in the FANCA gene. In a patient with VACTERL-H association, c.2504 + 1G> C homozygous mutation was found in the FANCG gene.
Conclusion
Fanconi anemia is common in our country. However, genotype determination studies have started in recent years. Fanconi anemia are the results of this study genotype the first reported from Turkey. By obtaining genotype results in more of our patients, the frequency of Fanconi genotype in our country should be determined and its relation with phenotype should be investigated. In addition, patients with VACTERL-H association should be evaluated in terms of Fanconi anemia.
Keyword(s):