Analysis of FANCA gene mutation in a child with refractory leukocytopenia and thrombocytopenia.
10.3760/cma.j.issn.1003-9406.2019.05.013
- Author:
Le XIA
1
;
Jun LU
Author Information
1. Department of Pediatrics, Haikou Hospital Affiliated to Central South University Xiangya School of Medicine, Haikou, Hainan 570208, China. Email: lu139762@163.com.
- Publication Type:Case Reports
- MeSH:
Child;
Exons;
Fanconi Anemia Complementation Group A Protein;
genetics;
Female;
Heterozygote;
Humans;
Leukopenia;
genetics;
Mutation;
Thrombocytopenia;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(5):468-471
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis of a child affected with refractory leukocytopenia and thrombocytopenia.
METHODS:Clinical manifestation and auxiliary examination of the child were discussed. Whole exome next generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) were used to detected potential mutations of the FANCA gene.
RESULTS:Repeated blood tests indicated that the child had abnormal WBC count at (2.7-3.98)×10^9;/L, platelet at (33-81) ×10^9;/L and hemoglobin at (100-120) g/L. NGS showed that she and her mother both carried a heterozygous c.3181A>G mutation (non-pathogenic) and a c.3788_3790del mutation of the FANCA gene. MLPA showed that she and her father both had heterozygous deletion of exons 11 to 14 of the FANCA gene.
CONCLUSION:The compound heterozygous mutations of c.3788_3790del and deletion of exons 11 to 14 of the FANCA gene probably underlie the refractory leukocytopenia and thrombocytopenia in the child.
