1·Conclusion The proband's hearing loss resulted from the compound heterozygous mutations N392Y and S448X for SLC26A4 gene.
结论SLC26A4基因的N392Y、S448X复合杂合突变是导致该先证者耳聋发生的原因。
2·Conclusion Inherited afibrinogenemia is caused by the compound heterozygous deletion in the fibrinogen FGA gene.
结论纤维蛋白原FGA基因复合杂合缺失是引起该家系先证者无纤维蛋白原血症的原因。