中华骨质疏松和骨矿盐疾病杂志2026，Vol.19Issue(1)：87-92,6.DOI:10.3969/j.issn.1674-2591.2026.01.010
WNT1基因复合杂合突变致成骨不全症15型一例报告
Osteogenesis imperfecta type 15 caused by compound heterozygous mutations in WNT1 gene:a case report
摘要
Abstract
A 9-year-old girl diagnosed with osteogenesis imperfecta ⅩⅤ was reported,who presented with low back pain,lumbar vertebral compression fracture and low bone mineral density.Genetic testing revealed compound hetero-zygous mutations in the WNT1 gene:c.403G＞A(p.Val135Ile)and c.901T＞A(p.Tyr301Asn).Neither of the parents had a similar phenotype.According to the genetic testing,the mather had a heterozygous mutation of c.403G＞A,and the father had a heterozygous mutation of c.901T＞A(p.Tyr301Asn).After bisphosphonate treatment,the proband had no recurrence of fracture and bone mineral density increased(Z-score at L1-L4 increased from-4.9 to-0.8),which was considered as the treament effective.The clinical manifestations and diagnosis and treatment characteristics of osteogenesis imperfecta ⅩⅤ were further summarized through literature review to enrich clinicians'understanding of this rare disease.关键词
成骨不全症/WNT1基因/新突变/全外显子测序Key words
osteogenesis imperfecta/WNT1 gene/novel mutation/whole-exome sequencing分类
医药卫生引用本文复制引用
黄水金,潘斌,林安华,霍亚南,王晨秀..WNT1基因复合杂合突变致成骨不全症15型一例报告[J].中华骨质疏松和骨矿盐疾病杂志,2026,19(1):87-92,6.基金项目
国家科技重大专项"癌症、心脑血管、呼吸和代谢性疾病防治研究"专项(2024ZD0532204) （2024ZD0532204）
江西省医学领先学科建设项目——老年医学(骨质疏松) （骨质疏松）
