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一种与高骨量相关的新型SGMS2突变；一个患有复发性脆性骨折的患病家族的描述。

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

作者信息

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

机构信息

Department of Endocrinology and Metabolism, All India Institute of Medical Sciences Nagpur, Plot 2, Sector 20, Mihan, Nagpur 441108, Maharashtra, India.

Department of Endocrinology, Kalinga Hospital Ltd, Kalinga Hospital Square, Chandrasekharpur, Bhubaneswar 751023, Odisha, India.

出版信息

Bone Rep. 2025 Mar 5;24:101833. doi: 10.1016/j.bonr.2025.101833. eCollection 2025 Mar.

DOI:10.1016/j.bonr.2025.101833
PMID:40123745
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11930198/
Abstract

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 gene and reports the first family of mutation with high bone mass.

摘要

突变可表现为儿童期起病的低骨量和反复发生的脆性骨折。我们报告了一名25岁男性，其家族有三代人反复发生脆性骨折且骨量弥漫性增高的病史。他被发现SGMS2基因存在杂合移码变异c.1052_1074dup。我们的病例突出了该基因中的一种新的基因突变，并报告了首个骨量增高的 突变家族。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e5f/11930198/81d8377eab1c/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e5f/11930198/a6da61c0749d/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e5f/11930198/6e4670c8940f/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e5f/11930198/81fb35ce3642/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e5f/11930198/9afe5c08b8f0/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e5f/11930198/e84223925ce8/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e5f/11930198/81d8377eab1c/gr6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e5f/11930198/a6da61c0749d/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e5f/11930198/6e4670c8940f/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e5f/11930198/81fb35ce3642/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e5f/11930198/9afe5c08b8f0/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e5f/11930198/e84223925ce8/gr5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2e5f/11930198/81d8377eab1c/gr6.jpg

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2
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3
Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway.
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Elife. 2022 Sep 14;11:e79278. doi: 10.7554/eLife.79278.
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Knockdown of sphingomyelin synthase 2 inhibits osteoclastogenesis by decreasing RANKL expression in mouse primary osteoblasts.鞘磷脂合酶2的敲低通过降低小鼠原代成骨细胞中RANKL的表达来抑制破骨细胞生成。
Biomed Res. 2019;40(5):189-196. doi: 10.2220/biomedres.40.189.
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Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.由 SGMS2 中的致病变异体引起的骨质疏松症和骨骼发育不良。
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Mechanism of Bone Mineralization.骨矿化机制。
Cold Spring Harb Perspect Med. 2018 Dec 3;8(12):a031229. doi: 10.1101/cshperspect.a031229.
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