摘要目的 分析1例黏多糖贮积病ⅣA型患儿的GALNS基因突变,探讨其分子发病机制.方法 测定1例黏多糖贮积病ⅣA型的女性患儿白细胞MPS相关酶的活性,对GALNS基因进行突变分析.结果 患儿主要表现为矮小、多发骨骼畸形、智力正常、听力减退,半乳糖胺-6-硫酸盐硫酸酯酶活性降低;测序结果显示患儿携带GALNS基因c.1094G＞T (p.Gly365Val)/c.938C＞T (p.Thr313Met)复合杂合突变;患儿父亲携带c.1094G＞T(p.Gly365Val)杂合突变,母亲携带c.938C＞T (p.Thr313Met)杂合突变,患儿的c.1094G＞T (p.Gly365Val)与c.938 C＞T (p.Thr313Met)突变分别源自父母.其中c.1094G＞T为未报道过的新突变.结论 GALNS基因c.1094G＞T (p.Gly365Val)/c.938C＞T (p.Thr313Met)突变可能为这例黏多糖贮积病ⅣA型患儿的致病原因.

abstractsObjective To detect potential mutation of galaetosamine-6-sulfate (GALNS) gene in a Chinese girl affected with mucopolysaccharidosis type Ⅳ A (Morquio A syndrome).Methods The patient was diagnosed by assaying the activities of mucopolysaccbaridosis-related enzymes in leukocytes.Potential mutation in the GALNS gene was detected with PCR and Sanger sequencing.Results The patient was characterized by short stature,skeletal deformities,normal intelligence,and auditory dysfunction.The activities of GALNS enzymes were low.A compound heterozygous missense mutation,c.1094G＞ T (p.Gly365Val)/c.938C＞ T (p.Thr313Met),was detected in the GALNS gene.The mutations were respectively inherited from her father and mother.Among them,the c.1094G＞T (p.Gly365Val) mutation was not reported previously.Conclusion The mutations c.1094G ＞ T (p.Gly365Val)/c.938C ＞ T (p.Thr313Met) probably underlie the pathogenesis of the disease in our patient.