摘要
目的对2例假性甲状旁腺功能减退症(PHP)Ia型患者及其家系成员进行临床及遗传学研究。方法回顾性分析我科收治2例PHPIa型患者的临床资料。结果2例患者均有Albright遗传性骨营养不良症(AHO)的特征性表现,其父母无异常临床表现。予补钙及维生素D治疗2.5年后,患者临床症状好转,但AHO畸形无明显变化。对患者及其父母的GNAS1基因进行测序,将所有基因序列与文献报道和GenBank数据库序列进行比对验证,同时测序30位与此家系无关的个体,发现2例患儿及其母亲的GNAS1基因11号外显子密码子291上都缺失一个碱基C,造成移码突变。患者父亲和30位无关个体均无此突变。结论GNAS1的一个新的基因移码突变通过母亲遗传导致2例患儿PHPIa型发病,本家系中的临床和遗传分析结果都与此相符。
Objective To study two patients with type Ia PHP and their family clinically and genetically, to prove the genotype by analyzing GNASI mutation. Methods Clinical data were collected for both patients before and after Calcium, Vitamin D treatment, DNA samples of two patients and their parents were taken and GNASI gene were sequenced. Compared the sequence with all reported and GenBank data. Unrelated 30 individuals were analyzed. Results Two patients showed typical AHO characteristics, their parents had no clinical signs. Base C were missed from codon 291 of exon 11 in GNASI gene of both patients and their mother, which made a framesinft mutation. This mutation was not found in their father or other studied subjects. Both patients alleviate symptoms, however, AHO is not adjustable. Conclusion Two patients get type Ia PHP by inheriting a new framesinft mutation of GNASI gene from the mother, confirmed by clinical, biochemical and genetic analysis. This gene mutation is a new one without previous report internationally.
出处
《罕少疾病杂志》
2006年第3期6-9,共4页
Journal of Rare and Uncommon Diseases
