TMEM38B Gene Mutation Associated With Osteogenesis Imperfecta

被引：0

作者：

Sobaihi, Mrouge ^{[1
]}

Habiballah, Abdullah K. ^{[1
]}

Habib, Abdulrahman M. ^{[1
]}

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dept Pediat, Jeddah, Saudi Arabia

来源：

CUREUS JOURNAL OF MEDICAL SCIENCE | 2024年 / 16卷 / 09期

关键词：

homozygous mutation in the tmem38b gene; tmem38b osteogenesis imperfecta; osteogenesis imperfecta xiv; tmem38b mutation; oi osteogenesis imperfecta; DELETION MUTATION; FORM;

D O I：

10.7759/cureus.69021

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Osteogenesis imperfecta is a genetic disorder characterized by decreased bone density, bone deformities, and fractures. It results from mutations in different genes, including all steps of collagen 1 synthesis and modifications. In addition, the gene is involved in the homeostasis of intracellular calcium. TMEM38B is a gene involved in the formation of a cation channel responsible for calcium entry intracellularly. Mutations in this gene are associated with osteogenesis imperfecta. However, this mutation has not been frequently discussed in the literature. In our study, we report a case of TMEM38B-associated autosomal recessive osteogenesis imperfecta in a child of a consanguineous family presented with a history of multiple prenatal and postnatal fractures. No other associated complications are present in our case.

引用

页数：5

共 37 条

[21] Novel missense mutation in PAX9 gene associated with familial tooth agenesis [J].

Boeira Junior, B. R. ;

Echeverrigaray, S. .

JOURNAL OF ORAL PATHOLOGY & MEDICINE, 2013, 42 (01) :99-105

[22] A Novel Missense Mutation of the DDHD1 Gene Associated with Juvenile Amyotrophic Lateral Sclerosis [J].

Wu, Chujun ;

Fan, Dongsheng .

Frontiers in Aging Neuroscience, 2016, 8

[23] Germline mutation in Cbl proto-oncogene B is associated with inherited thrombocytopenia and predisposes megakaryocytes to ferroptosis [J].

Xiao, Xiang ;

Xie, Rongli ;

Zhang, Yang ;

Yin, Yafei ;

Chen, Yongheng ;

Sun, Nannan ;

Cheng, Zhao ;

Zhang, Guangsen .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2025, 1871 (05)

[24] A Novel Mutation (D631 del) of the RET Gene Was Associated with MEN2A in a Chinese Pedigree [J].

Yao, Bin ;

Liu, Xue ;

Liang, Hua ;

Dong, Ting-ting ;

Huang, Zhi-min ;

Chen, Xiong ;

Weng, Jian-ping .

ENDOCRINE JOURNAL, 2009, 56 (01) :99-104

[25] The squiggle tail (squig) mutation in mice is associated with a deletion in the mesenchyme homeobox 1 (Meox1) gene [J].

Jon P. Girard ;

Jacqueline F. Tomasiello ;

Juan I. Samuel-Constanzo ;

Nia Montero ;

Angelina M. Kendra ;

Thomas R. King .

BMC Research Notes, 15

[26] A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family [J].

Deng, Yuyuan ;

Niu, Zhijie ;

Fan, LiangLiang ;

Ling, Jie ;

Chen, Hongsheng ;

Cai, Xinzhang ;

Mei, Lingyun ;

He, Chufeng ;

Zhang, Xuewei ;

Wen, Jie ;

Li, Meng ;

Li, Wu ;

Li, Taoxi ;

Sang, Shushan ;

Liu, Yalan ;

Feng, Yong .

JOURNAL OF HUMAN GENETICS, 2018, 63 (06) :723-730

[27] The squiggle tail (squig) mutation in mice is associated with a deletion in the mesenchyme homeobox 1 (Meox1) gene [J].

Girard, Jon P., II ;

Tomasiello, Jacqueline F. ;

Samuel-Constanzo, Juan, I ;

Montero, Nia ;

Kendra, Angelina M. ;

King, Thomas R. .

BMC RESEARCH NOTES, 2022, 15 (01)

[28] X gene/core promoter deletion mutation: A novel mechanism leading to hepatitis B 'e' antigen-negative chronic hepatitis B [J].

Zhou, Fei ;

Xu, Hongzhi ;

Chen, Meiya ;

Xiao, Hongmin ;

Zhang, Zhiping ;

Lu, Yapi ;

Ren, Jianlin ;

Dong, Jing .

MOLECULAR MEDICINE REPORTS, 2014, 10 (02) :799-803

[29] A novel deletion mutation, c.1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental syndrome [J].

Jingshang Zhang ;

Hongyan Jia ;

Jinda Wang ;

Ying Xiong ;

Jing Li ;

Xiaoxia Li ;

Jing Zhao ;

Xiaohui Zhang ;

Qisheng You ;

Guyu Zhu ;

Frank FTsai ;

Mark Espina ;

Xiuhua Wan .

Science China(Life Sciences), 2019, 62 (01) :119-125

[30] A novel deletion mutation, c.1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental syndrome [J].