WNT1基因复合杂合突变致成骨不全症15型一例报告OA
Osteogenesis imperfecta type 15 caused by compound heterozygous mutations in WNT1 gene:a case report
本文报告 1 例诊断为成骨不全症 15 型(osteogenesis imperfecta ⅩⅤ,OI-ⅩⅤ)的 9 岁女童,临床表现为腰痛、腰椎压缩性骨折、低骨密度,基因检测为 WNT1 基因复合杂合突变,即 c.403G＞A(p.Val135Ile)和 c.901T＞A(p.Tyr301Asn).父母无类似表型,基因检测母亲为 c.403G＞A 杂合突变,父亲为 c.901T＞A 杂合突变.先证者予双膦酸盐治疗后,未再发骨折,骨密度升高(腰椎 L1-L4 的 Z 值从-4.9 升高至-0.8),考虑治疗有效.通过文献复习进一步总结 OI-ⅩⅤ的临床表现和诊疗特点,丰富临床医师对这一罕见疾病的临床认识.
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.
黄水金;潘斌;林安华;霍亚南;王晨秀
330000 南昌,江西省人民医院(南昌医学院第一附属医院)内分泌·骨质疏松与骨病科330200 南昌,南昌县中医院内三科330000 南昌,江西省人民医院(南昌医学院第一附属医院)内分泌·骨质疏松与骨病科330000 南昌,江西省人民医院(南昌医学院第一附属医院)内分泌·骨质疏松与骨病科330000 南昌,江西省人民医院(南昌医学院第一附属医院)内分泌·骨质疏松与骨病科
医药卫生
成骨不全症WNT1基因新突变全外显子测序
osteogenesis imperfectaWNT1 genenovel mutationwhole-exome sequencing
《中华骨质疏松和骨矿盐疾病杂志》 2026 (1)
87-92,6
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)江西省医学领先学科建设项目——老年医学(骨质疏松)
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