scholarly journals A novel mutation in PLS3 causes extremely rare X‐linked osteogenesis imperfecta

2020 ◽  
Vol 8 (12) ◽  
Author(s):  
Jing Hu ◽  
Lu‐jiao Li ◽  
Wen‐bin Zheng ◽  
Di‐chen Zhao ◽  
Ou Wang ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Novel Mutation

A novel mutation in IFITM5, encoding BRIL, impairs osteoblast production of PEDF and causes atypical type VI osteogenesis imperfecta

2014 ◽  
Author(s):  
Adi Reich ◽  
Charles R Farber ◽  
Aileen M Barnes ◽  
Patricia Becerra ◽  
Frank Rauch ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Novel Mutation

scholarly journals Correction to: Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta

2019 ◽  
Vol 26 (1) ◽  
Author(s):  
Mehran Kausar ◽  
Saima Siddiqi ◽  
Muhammad Yaqoob ◽  
Sajid Mansoor ◽  
Outi Makitie ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Novel Mutation ◽  
Pakistani Family

scholarly journals A novel Gly to Arg substitution at position 388 of the alpha1 chain of type I collagen in lethal form of osteogenesis imperfecta.

2002 ◽  
Vol 49 (2) ◽  
pp. 443-450 ◽  
Author(s):  
Anna Galicka ◽  
Slawomir Wolczynski ◽  
Ryszard Lesniewicz ◽  
Lech Chyczewski ◽  
Andrzej Gindzienski
Keyword(s):  
Osteogenesis Imperfecta ◽  
Type I Collagen ◽  
Peptide Mapping ◽  
Novel Mutation ◽  
Direct Sequencing ◽  
Base Change ◽  
Clinical Severity ◽  
Restriction Enzyme Digestion ◽  
Type I ◽  
Cultured Skin

Cultured skin fibroblasts from a proband with a lethal form of osteogenesis imperfecta produce two forms of type I collagen chains, with normal and delayed electrophoretic migration; collagen of the proband's mother was normal. Peptide mapping experiments localized the structural defect in the proband to alpha1(I) CB8 peptide in which residues 123 to 402 are spaned. Direct sequencing of amplified cDNA covering this region revealed a G to A single base change in one allele of the alpha1(I) chain, that converted glycine 388 to arginine. Restriction enzyme digestion of the RT-PCR product was consistent with a heterozygous COL1A1 mutation. The novel mutation conforms to the linear gradient of clinical severity for the alpha1(I) chain and results in reduced thermal stability by 3 degrees C and intracellular retention of abnormal molecules.

scholarly journals A novel missense mutation in P4HB causes mild osteogenesis imperfecta

2019 ◽  
Vol 39 (4) ◽  
Author(s):  
Lujiao Li ◽  
Dichen Zhao ◽  
Wenbin Zheng ◽  
Ou Wang ◽  
Yan Jiang ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Missense Mutation ◽  
Bone Fractures ◽  
Novel Mutation ◽  
Pathogenic Mutation ◽  
Chinese Family ◽  
Type I ◽  
Mineral Density ◽  
Type I Procollagen ◽  
Helix Formation

AbstractOsteogenesis imperfecta (OI) is a rare heritable bone disorder characterized by low bone mineral density (BMD), recurrent bone fractures, and progressive bone deformities. P4HB encodes protein disulfide isomerase (PDI) and is identified as a novel candidate gene of OI. The purposes of the present study are to detect pathogenic mutation, to evaluate the phenotypes of a Chinese family with mild OI, and to investigate the effects of bisphosphonates on bone of the proband. We detected the pathogenic mutation by next generation sequencing and Sanger sequencing. Laboratory and radiological investigations were conducted to evaluate the phenotypes. The proband was a 12-year-old girl with low BMD, history of recurrent non-traumatic fractures, slight scoliosis, with bluish grey sclera and ligamentous laxity. Her father suffered from one fragility fracture and slight wedge changes of vertebras, with bluish grey sclera. We identified a novel heterozygous missense mutation (c.692A>C, p.His231Pro) in P4HB in the proband and her father. This mutation was predicted to affect the combination of PDI with type I procollagen and lead to the disorder of its triple helix formation. Bisphosphonates were effective in reducing bone resorption and increasing BMD of the proband with well tolerance. In conclusion, we identified a novel mutation in P4HB in a Chinese family with mild OI, which expanded the genotypic and phenotypic spectrum of OI. Bisphosphonates were effective to this extremely rare OI induced by P4HB mutation.

scholarly journals A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly

2019 ◽  
Vol 6 (2) ◽  
pp. 138-146 ◽  
Author(s):  
Thunyaporn Budsamongkol ◽  
Narin Intarak ◽  
Thanakorn Theerapanon ◽  
Somchai Yodsanga ◽  
Thantrira Porntaveetus ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Novel Mutation ◽  
Overlap Syndrome

scholarly journals A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta

PLoS ONE ◽  
2012 ◽  
Vol 7 (5) ◽  
pp. e36809 ◽  
Author(s):  
Masaki Takagi ◽  
Tomohiro Ishii ◽  
Aileen M. Barnes ◽  
MaryAnn Weis ◽  
Naoko Amano ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Novel Mutation
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