Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation

@article{Shaheen2012StudyOA,
  title={Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation},
  author={Ranad Shaheen and Anas M. Alazami and Muneera J. Alshammari and Eissa Ali Faqeih and Nadia Alhashmi and Noon Mousa and Aisha Alsinani and Shinu Ansari and Fatema Alzahrani and Mohammed A. Al-Owain and Zayed S. Alzayed and Fowzan S. Alkuraya},
  journal={Journal of Medical Genetics},
  year={2012},
  volume={49},
  pages={630 - 635}
}
Background Osteogenesis imperfecta (OI) is an hereditary bone disease in which increased bone fragility leads to frequent fractures and other complications, usually in an autosomal dominant fashion. An expanding list of genes that encode proteins related to collagen metabolism are now recognised as important causes of autosomal recessive (AR) OI. Our aim was to study the contribution of known genes to AR OI in order to identify novel loci in mutation-negative cases. Methods We enrolled… 
A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta
Autosomal recessive osteogenesis imperfecta (OI) was diagnosed in three unrelated Israeli Bedouin consanguineous families. Fractures were evident in all cases in infancy. Genome‐wide linkage analysis
Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta
TLDR
The findings of the novel mutations in TMEM38B expand the pathogenic spectrum of OI and strengthen the role of TRIC-B in the pathogenesis of Oi.
Mutations in WNT1 are a cause of osteogenesis imperfecta
TLDR
Recessive inactivating mutations in WNT1 are a new cause of OI type IV, a heritable bone fragility disorder that is usually due to dominant mutations in COL1A1 orCOL1A2.
Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.
TLDR
The findings should contribute to elucidating this relationship in patients diagnosed with OI by identifying mutations and allelic variants of the COL1A1 gene which are important for bone strength and flexibility.
Detection of a Recurrent TMEM38B Gene Deletion Associated with Recessive Osteogenesis Imperfecta
TLDR
This study expands the knowledge about the rare type of osteogenesis imperfecta in the consanguineous population and emphasizes the use of genomic medicine in clinical practices to formulate early interventions to clinically improve the patient’s condition.
Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.
TLDR
The results strengthen the proposition that LEPRE1 should be the first gene analyzed in mutation detection studies in patients with recessive OI, and Genetic variations detected in the PPIB gene are probably not pathogenic due to their localization or because of their synonymous effect.
Mutational spectrum of COL1A1 and COL1A2 in Egyptian patients with autosomal dominant osteogenesis imperfecta with clinical severity score and genotype/phenotype correlation
TLDR
This is the first study to report on the mutational spectrum of autosomal dominant osteogenesis imperfecta among Egyptians and shows no common or hotspot COL1A1 mutations; this might reflect genetic heterogeneity of the disease in Egyptian patients.
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References

SHOWING 1-10 OF 27 REFERENCES
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
TLDR
A consanguineous Egyptian family with two children diagnosed with severe autosomal recessive osteogenesis imperfecta (AR‐OI) and a large umbilical hernia is studied, concluding that BMP1 is an additional gene mutated in AR‐Oi.
A Missense Mutation in the SERPINH1 Gene in Dachshunds with Osteogenesis Imperfecta
TLDR
A candidate causative mutation for OI in Dachshunds is identified and a fifth OI gene is identified located within this interval and encodes an essential chaperone involved in the correct folding of the collagen triple helix.
Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.
TLDR
The findings indicate that the OI type II phenotype is biochemically heterogeneous, that the majority result from new dominant mutations in the genes encoding type I collagen, and that some recurrences can be accounted for by gonadal mosaicism in one of the parents.
Mutations in SERPINF1 Cause Osteogenesis Imperfecta Type VI
TLDR
Loss of pigment epithelium–derived factor function constitutes a novel mechanism for OI and shows its involvement in bone mineralization.
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans
TLDR
It is confirmed that FKBP10 is a bonafide BS locus and lay the foundation for future research into modifiers that underlie the phenotypic heterogeneity of FK BP10 mutations.
Osteogenesis imperfecta: Epidemiology and pathophysiology
TLDR
Questions exist regarding the difference in treatment response between children and adults with OI, and other treatment options, such as recombinant human parathyroid hormone, Rank ligand inhibitors, and stem cell technology, are being evaluated or are of future investigative interest.
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