[Analysis of FANCA gene mutation in a child with refractory leukocytopenia and thrombocytopenia].

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.