A novel SGMS2 mutation associated with high bone mass; description of an affected family with recurrent fragility fractures

IF 2.1 Q3 ENDOCRINOLOGY & METABOLISM

Bone Reports Pub Date : 2025-03-01 DOI:10.1016/j.bonr.2025.101833

Shinjan Patra , Sweekruti Jena , Ketki Kedar , Minal Pande , Kishore K Katam , Ashka Prajapti , Udhaya Kotecha , Parin Vyas

引用次数: 0

Abstract

SGMS2 mutation can present with childhood-onset low bone mass and recurrent fragility fractures. We report a 25-year-old man with a three-generation family history of recurrent fragility fractures and diffuse high bone mass. He was found to have a heterozygous frameshift variant c.1052_1074dup in the SGMS2 gene.

Our case highlights a novel genetic mutation in the SGMS2 gene and reports the first family of SGMS2 mutation with high bone mass.

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与高骨量有关的新型 SGMS2 基因突变；描述一个反复发生脆性骨折的受影响家族

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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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.