Jicai Zhu, Kai Liu, Shan He, Zihao Yang, Jiaying Song, Yan Ju, Caiyun Xiong, Guomei Zhang, Wen Yang, Chunhui Tang
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引用次数: 0
Abstract
The Wnt signaling pathway is vital in encouraging bone growth. WNT1 gene mutations have been identified as the major cause of type XV osteogenesis imperfecta (OI). Described here is a case of complex heterozygous WNT1 c.620G>A (p.R207H) and c.677C >T (p.S226L) OI caused by a novel mutation at locus c.620G >A (p.R207H). The female patient had type XV OI, distinguished by poor bone density, frequent fractures, a small stature, skull softening, lack of dentine hypoplasia, a brain malformation, and obvious blue sclera. A CT scan of the temporal bone revealed abnormalities of the inner ear, necessitating a hearing aid 8 months after birth. There was no family history of such disorders in the proband's parents. The proband inherited complex heterozygous WNT1 gene variants c.677C>T (p.S226L) and c.620G>A (p.R207H) from her father and mother, respectively. Presented here is a case of OI with inner ear deformation caused by c.620G>A (p.R207H), which is a novel WNT1 site mutation. This case broadens the genetic spectrum of OI and it provides a rationale for genetic testing of mothers and a medical consultation to estimate the risk of fetal illness.
Wnt信号通路对促进骨生长至关重要。WNT1基因突变已被确定为XV型成骨不全(OI)的主要原因。本文描述了一个复杂杂合的WNT1 c.620G> a (p.R207H)和c.677C >T (p.S226L) OI的病例,这是由基因座c.620G> a (p.R207H)的新突变引起的。女性患者为XV型成骨不全,骨密度差,骨折频繁,身材矮小,颅骨软化,缺乏牙本质发育不全,脑畸形,巩膜明显蓝色。颞骨CT扫描显示内耳异常,需要在出生8个月后佩戴助听器。先证者父母无此类疾病家族史。先证者分别从父亲和母亲处遗传了复合杂合WNT1基因变异c.677C>T (p.S226L)和c.620G>A (p.R207H)。本文报告一例由c.620G> a (p.R207H)引起的内耳变形的OI病例,这是一种新的WNT1位点突变。本病例拓宽了成骨不全的遗传谱,为母亲的基因检测和估计胎儿疾病风险的医学咨询提供了依据。