点状掌跖角化病一汉族家系临床表型分析及AAGAB基因突变检测

目的 分析一个中国汉族人点状掌跖角化病（PPPK）家系临床表型及遗传学特征,探讨AAGAB基因突变情况。方法 2015年4月铜陵市人民医院通过PPPK家系调查,收集PPPK家系资料,分析临床表型及遗传学特征;对PPPK家系患者采用聚合酶链反应（PCR）扩增AAGAB基因10个外显子,对扩增产物进行直接测序。结果 患者表现为掌跖处迟发性、进行性增多、增大的角化性丘疹;第二代患者皮损明显重于第三代;同辈患者中,劳动强度大者,皮损症状重。遗传方式为常染色体显性遗传, PPPK家系家系患者AAGAB基因编码区无突变。结论 PPPK家系患者皮损严重程度与年龄、劳动强度有关,PPPK家系发病与AAGAB基因编码区突变无关联,PPPK存在其他致病基因。

Analysis of clinical phenotype and detection of AAGAB gene mutation in a Chinese Han family with punctate palmoplantar keratoderma

Objective To analyze the characteristics of clinical phenotype and detect AAGAB gene mutation in a Chinese Han family with punctate palmoplantar keratoderma. Methods The clinical characteristics and inheritance of the family were evaluated, and pedigree was drawn based on medical history investigation by the workgroup from Tongling People''s Hospital in April 2015. Ten exons of AAGAB gene of all affected individuals from the family were scanned by PCR amplification and DNA direct sequencing. Results The family was characterized bykeratotic papules on the palms and soles, which gradually increased in size and number with age and coalesced with each other, especially over the pressure part of the palms and soles. PPPK in the family was mode of autosomal dominant inheritance. No mutation was found in the ten exons of AAGAB gene of the affected individuals in the family. Conclusion There is no evidence to indicate the correlation between this PPPK pedigree and AAGAB gene mutations. Further investigation is required to identify the causativegene in the family.