TMEM38B Gene Mutation Associated With Osteogenesis Imperfecta

Overview

Journal Cureus

Specialty Biomedical Engineering

Date 2024 Oct 10

PMID 39385871

Authors

Mrouge Sobaihi

Abdullah K Habiballah

Abdulrahman M Habib

Affiliations

Soon will be listed here.

Abstract

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.

References

Rubinato E, Morgan A, DEustacchio A, Pecile V, Gortani G, Gasparini P . A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta. Gene. 2014; 545(2):290-2. DOI: 10.1016/j.gene.2014.05.028. View

Marini J, Blissett A . New genes in bone development: what's new in osteogenesis imperfecta. J Clin Endocrinol Metab. 2013; 98(8):3095-103. PMC: 3733862. DOI: 10.1210/jc.2013-1505. View

Ward L, Rauch F, Travers R, Chabot G, Azouz E, Lalic L . Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. Bone. 2002; 31(1):12-8. DOI: 10.1016/s8756-3282(02)00790-1. View

Sillence D, Senn A, Danks D . Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979; 16(2):101-16. PMC: 1012733. DOI: 10.1136/jmg.16.2.101. View

van Dijk F, Sillence D . Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 2014; 164A(6):1470-81. PMC: 4314691. DOI: 10.1002/ajmg.a.36545. View

Cabral W, Ishikawa M, Garten M, Makareeva E, Sargent B, Weis M . Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta. PLoS Genet. 2016; 12(7):e1006156. PMC: 4956114. DOI: 10.1371/journal.pgen.1006156. View

Cundy T . Recent advances in osteogenesis imperfecta. Calcif Tissue Int. 2012; 90(6):439-49. DOI: 10.1007/s00223-012-9588-3. View

Lv F, Xu X, Wang J, Liu Y, Asan , Wang J . Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta. J Hum Genet. 2016; 61(6):539-45. DOI: 10.1038/jhg.2016.11. View

Shaheen R, AlAzami A, Alshammari M, Faqeih E, Alhashmi N, Mousa N . Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. J Med Genet. 2012; 49(10):630-5. DOI: 10.1136/jmedgenet-2012-101142. View

10.

Jenny C . Evaluating infants and young children with multiple fractures. Pediatrics. 2006; 118(3):1299-303. DOI: 10.1542/peds.2006-1795. View

11.

Marini J, Reich A, Smith S . Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation. Curr Opin Pediatr. 2014; 26(4):500-7. PMC: 4183132. DOI: 10.1097/MOP.0000000000000117. View

12.

Glorieux F, Rauch F, Plotkin H, Ward L, Travers R, Roughley P . Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res. 2000; 15(9):1650-8. DOI: 10.1359/jbmr.2000.15.9.1650. View

13.

Rohrbach M, Giunta C . Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings. Am J Med Genet C Semin Med Genet. 2012; 160C(3):175-89. DOI: 10.1002/ajmg.c.31334. View

14.

Forlino A, Cabral W, Barnes A, Marini J . New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol. 2011; 7(9):540-57. PMC: 3443407. DOI: 10.1038/nrendo.2011.81. View

15.

Panzaru M, Florea A, Caba L, Gorduza E . Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling. World J Clin Cases. 2023; 11(12):2604-2620. PMC: 10198117. DOI: 10.12998/wjcc.v11.i12.2604. View

16.

Ramzan K, Alotaibi M, Huma R, Afzal S . Detection of a Recurrent TMEM38B Gene Deletion Associated with Recessive Osteogenesis Imperfecta. Discoveries (Craiova). 2021; 9(1):e124. PMC: 8140756. DOI: 10.15190/d.2021.3. View

17.

Volodarsky M, Markus B, Cohen I, Staretz-Chacham O, Flusser H, Landau D . A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. Hum Mutat. 2013; 34(4):582-6. DOI: 10.1002/humu.22274. View

18.

Forlino A, Marini J . Osteogenesis imperfecta. Lancet. 2015; 387(10028):1657-71. PMC: 7384887. DOI: 10.1016/S0140-6736(15)00728-X. View

19.

Martinez-Glez V, Valencia M, Caparros-Martin J, Aglan M, Temtamy S, Tenorio J . Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum Mutat. 2011; 33(2):343-50. PMC: 3725821. DOI: 10.1002/humu.21647. View