Letter to the editor in response to Duan X, et al, CYP4A22 loss-of-function causes a new type of vitamin D-dependent rickets (VDDR1C).

IF 5.1 1区医学 Q1 ENDOCRINOLOGY & METABOLISM

Journal of Bone and Mineral Research Pub Date : 2024-12-23 DOI:10.1093/jbmr/zjae203

Michael A Levine, Dong Li, Jeffrey Roizen, David Weber

引用次数: 0

Abstract

Duan X, et al, report that CYP4A22 loss-of-function causes a new form of vitamin D-dependent rickets. Here we describe the basis for our rejection of their proposal and provide evidence that the CYP4A22 variant that they have identified (c.901del, p.Glu301Argfs*80 (NM_001010969.4)), is a common allelic variant that is particularly prevalent in the East Asian population that includes the patients that they studied. Finally, we submit that the two patients are more likely to have X-linked Hypophosphatemic rickets than vitamin D dependent rickets.

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来源期刊

Journal of Bone and Mineral Research 医学-内分泌学与代谢

CiteScore

11.30

自引率

6.50%

发文量

257

审稿时长

2 months

期刊介绍： The Journal of Bone and Mineral Research (JBMR) publishes highly impactful original manuscripts, reviews, and special articles on basic, translational and clinical investigations relevant to the musculoskeletal system and mineral metabolism. Specifically, the journal is interested in original research on the biology and physiology of skeletal tissues, interdisciplinary research spanning the musculoskeletal and other systems, including but not limited to immunology, hematology, energy metabolism, cancer biology, and neurology, and systems biology topics using large scale “-omics” approaches. The journal welcomes clinical research on the pathophysiology, treatment and prevention of osteoporosis and fractures, as well as sarcopenia, disorders of bone and mineral metabolism, and rare or genetically determined bone diseases.