一名患有头葶畸形、奇异综合征 I 型和鞘状肌萎缩症的 7 岁女孩因一种新的剪接位点变异而患上 X 连锁低磷血症

IF 2.1 Q3 ENDOCRINOLOGY & METABOLISM

Bone Reports Pub Date : 2023-12-13 DOI:10.1016/j.bonr.2023.101731

Maria Fourikou , Aristea Karipiadou , Athina Ververi , Parthena Savvidou , Nikolaos Laliotis , Vassilios Tsitouras , Stella Stabouli , Emmanuel Roilides , Konstantinos Kollios

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引用次数: 0

摘要

X 连锁低磷血症（XLH）是一种罕见的 X 连锁显性遗传疾病，由 PHEX 基因的功能缺失变异引起，以肾磷酸盐消耗、低磷血症、维生素 D 代谢异常、生长迟缓和下肢畸形为特征。我们描述了一例患有 XLH-佝偻病的 7 岁女孩，她患有肩胛畸形、Chiari 综合征 I 型和鞘状肌萎缩症，其 PHEX 基因内含子 9 中存在一个新的非典型剪接变异（c.1080-3C >G），这在以前的病例中从未出现过。

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X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia

X-linked hypophosphatemia (XLH) is a rare X-linked dominant inherited disorder caused by loss-of-function variants in the PHEX gene and characterized by renal phosphate wasting, hypophosphatemia, abnormal vitamin D metabolism, growth retardation and lower limb deformities. We describe a case of XLH-rickets in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia, with a de novo non-canonical splice variant (c.1080-3C > G) in intron 9 of the PHEX gene, that has not been previously described.

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来源期刊

Bone Reports Medicine-Orthopedics and Sports Medicine

CiteScore

4.30

自引率

4.00%

发文量

444

审稿时长

57 days

期刊介绍： Bone Reports is an interdisciplinary forum for the rapid publication of Original Research Articles and Case Reports across basic, translational and clinical aspects of bone and mineral metabolism. The journal publishes papers that are scientifically sound, with the peer review process focused principally on verifying sound methodologies, and correct data analysis and interpretation. We welcome studies either replicating or failing to replicate a previous study, and null findings. We fulfil a critical and current need to enhance research by publishing reproducibility studies and null findings.