Journal article
A Novel Frameshift Mutation in the FGA Gene (c.196 delT) Leading to Congenital Afibrinogenemia.
- Aydin Köker S Division of Pediatric Hematology and Oncology.
- Köker A Division of Pediatrics, Hatay State Hospital, Hatay, Turkey.
- Neerman-Arbez M Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
- Ö Tunçer G Division of Pediatrics, Hatay State Hospital, Hatay, Turkey.
- Akbas Y Division of Pediatrics, Hatay State Hospital, Hatay, Turkey.
- Kara TT Division of Pediatrics, Hatay State Hospital, Hatay, Turkey.
- Coban Y Division of Pediatrics, Hatay State Hospital, Hatay, Turkey.
- 2019-11-15
Published in:
- Journal of pediatric hematology/oncology. - 2020
Afibrinogenemia
Child
Child, Preschool
Female
Fibrinogen
Frameshift Mutation
Genetic Testing
Humans
Male
Prognosis
English
BACKGROUND
Congenital afibrinogenemia is characterized by the absence of fibrinogen. Congenital fibrinogen disorders result from several mutations in FGA, FGB, or FGG. Their epidemiology is not well known.
OBSERVATION
The present study reports on 2 children with congenital afibrinogenemia. The first child, a male who is now 9 years old, was diagnosed with afibrinogenemia after spontaneous intracranial bleeding at the age of 3 years. The second child is a 2-year-old female cousin of the first patient, who was diagnosed with afibrinogenemia after coagulation tests were carried out due to frequent epistaxis and mucocutaneous bleeding. At follow-up, blood samples of the patients and their parents were sent to the Department of Genetic Medicine and Development, University Medical Center, Switzerland, for polymerase chain reaction analysis. In both patients, the novel homozygous frameshift mutation in the FGA exon 3: c.196 delT was detected. The parents of the patients were both heterozygous for the same mutation.
CONCLUSIONS
Congenital afibrinogenemia is a rare coagulation disease. The molecular epidemiology of congenital fibrinogen disorders is complex, and the identification of new mutations will help shed light on this complex molecular structure. Therefore, a genetic analysis that includes more centers is needed.
Congenital afibrinogenemia is characterized by the absence of fibrinogen. Congenital fibrinogen disorders result from several mutations in FGA, FGB, or FGG. Their epidemiology is not well known.
OBSERVATION
The present study reports on 2 children with congenital afibrinogenemia. The first child, a male who is now 9 years old, was diagnosed with afibrinogenemia after spontaneous intracranial bleeding at the age of 3 years. The second child is a 2-year-old female cousin of the first patient, who was diagnosed with afibrinogenemia after coagulation tests were carried out due to frequent epistaxis and mucocutaneous bleeding. At follow-up, blood samples of the patients and their parents were sent to the Department of Genetic Medicine and Development, University Medical Center, Switzerland, for polymerase chain reaction analysis. In both patients, the novel homozygous frameshift mutation in the FGA exon 3: c.196 delT was detected. The parents of the patients were both heterozygous for the same mutation.
CONCLUSIONS
Congenital afibrinogenemia is a rare coagulation disease. The molecular epidemiology of congenital fibrinogen disorders is complex, and the identification of new mutations will help shed light on this complex molecular structure. Therefore, a genetic analysis that includes more centers is needed.
- Language
-
- English
- Open access status
- closed
- Identifiers
-
- DOI 10.1097/MPH.0000000000001658
- PMID 31725541
- Persistent URL
- https://sonar.ch/global/documents/46905
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