Conclusions G337D and Q498X mutations in hairless gene seem to be responsible for the phenotypes in the patient suffered from atrichia with papular lesions.

• 而其父母及一弟该基因仅存在其中的一处杂合突变。结论该患者无毛基因中G337D及Q498X两处突变可能使该基因无法编码正常的蛋白,为导致临床表现的特异突变。