Compound heterozygous mutations were identified in the patient: We identified a heterozygous G-to-A transition at nucleotide 1010 in exon 3 of HR leading to the conversion of a glycin residue to a aspartic acid residue at amino acid position 337 (G337D).

• 结果发现患者HR基因存在两处杂合突变:第3外显子的1010位碱基由鸟嘌呤变为腺嘌呤,使第337位氨基酸由甘氨酸突变为天冬氨酸(G337D);