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Type XV osteogenesis imperfecta: A novel mutation in the WNT1 gene, c.620G >A (p.R207H), is associated with an inner ear deformity

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机构： [1]Department of Pediatrics, The First People's Hospital of Yunnan Province, Medical School & Affiliated Hospital, Kunming University of Scienceand Technology, Kunming, Yunnan, China [2]Medical School & Affiliated Hospital, Kunming University of Science and Technology. Department of Radiology, The First People's Hospital ofYunnan Province, Kunming, Yunnan, China [3]Medical School & Affiliated Hospital, Kunming University of Science and Technology. Department of Pediatrics, The First People's Hospital ofYunnan Province, Kunming, Yunnan, China

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关键词： type XV osteogenesis imperfecta heterozygous mutation WNT1 inner ear dysplasia

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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.

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最新[2023]版：

Q2 MEDICINE, GENERAL & INTERNAL

影响因子： 1.1 最新[2023版] 1.5 最新五年平均 1.3 出版当年[2022版] 1.6 出版当年五年平均 0 出版前一年[2021版] 1.1 出版后一年[2023版]

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第一作者机构： [1]Department of Pediatrics, The First People's Hospital of Yunnan Province, Medical School & Affiliated Hospital, Kunming University of Scienceand Technology, Kunming, Yunnan, China

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通讯机构： [1]Department of Pediatrics, The First People's Hospital of Yunnan Province, Medical School & Affiliated Hospital, Kunming University of Scienceand Technology, Kunming, Yunnan, China [*1]Department of Pediatrics, The First People's Hospital of Yunnan Province, Kunming 650021, Yunnan, China.

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