ArticleBone2017
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta.
Article in Bone, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 54 citations in OpenAlex.
- A novel compound heterozygous NBAS variant with HLH and multisystem involvement: expanding the clinical spectrum and literature review.Frontiers in immunology · 2026Review
- Cell Trafficking Disorders Play an Important Role in the Pathogenesis of Skeletal Dysplasias.Turkish archives of pediatrics · 2025Article
- Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.Liver international : official journal of the International Association for the Study of the Liver · 2025Observational
- [Clinical features and genetic study of four cases of pediatric acute liver failure caused byZhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2025Article
- A novel splicing variant inFrontiers in genetics · 2025Article
- Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.Journal of inherited metabolic disease · 2025Review
- Translation-coupled mRNA quality control mechanisms.The EMBO journal · 2023Review
- RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.The Journal of clinical investigation · 2023Article
- NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy.Metabolic brain disease · 2021Article
- Collagen transport and related pathways in Osteogenesis Imperfecta.Human genetics · 2021Review
- Novel compound heterozygous variants in theBMJ case reports · 2021Article
- Genome-Wide Association Analysis of Growth Curve Parameters in Chinese Simmental Beef Cattle.Animals : an open access journal from MDPI · 2021Article
- Determining Anterior Fontanel Size and Associated Factors Among Term Neonates on the First Day of Life Born at Jimma University Medical Center (JUMC), Southwest Ethiopia: A Linear Regression Model.Pediatric health, medicine and therapeutics · 2021Article
- Identification of a localized nonsense-mediated decay pathway at the endoplasmic reticulum.Genes & development · 2020Article
- Reproductive options for families at risk of Osteogenesis Imperfecta: a review.Orphanet journal of rare diseases · 2020Review
- Membrane trafficking in health and disease.Disease models & mechanisms · 2020Review
- Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Complex Multisystem Phenotype With Immunodeficiency Associated WithFrontiers in pediatrics · 2020Article
- RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.American journal of human genetics · 2019Article
- SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.Journal of human genetics · 2019Article
Corrections and comments
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Authors and funding
19 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundOsteogenesis imperfecta (OI), the commonest inherited bone fragility disorder, affects 1 in 15,000 live births resulting in frequent fractures and reduced mobility, with significant impact on quality of life. Early diagnosis is important, as therapeutic advances can lead to improved clinical outcome and patient benefit. REPORT: Whole exome sequencing in patients with OI identified, in two patients with a multi-system phenotype, compound heterozygous variants in NBAS (neuroblastoma amplified sequence). Patient 1: NBAS c.5741G>A p.(Arg1914His); c.3010C>T p.(Arg1004*) in a 10-year old boy with significant short stature, bone fragility requiring treatment with bisphosphonates, developmental delay and immunodeficiency. Patient 2: NBAS c.5741G>A p.(Arg1914His); c.2032C>T p.(Gln678*) in a 5-year old boy with similar presenting features, bone fragility, mild developmental delay, abnormal liver function tests and immunodeficiency. DISCUSSION: Homozygous missense NBAS variants cause SOPH syndrome (short stature; optic atrophy; Pelger-Huet anomaly), the same missense variant was found in our patients on one allele and a nonsense variant in the other allele. Recent literature suggests a multi-system phenotype. In this study, patient fibroblasts have shown reduced collagen expression, compared to control cells and RNAseq studies, in bone cells show that NBAS is expressed in osteoblasts and osteocytes of rodents and primates. These findings provide proof-of-concept that NBAS mutations have mechanistic effects in bone, and that NBAS variants are a novel cause of bone fragility, which is distinguishable from 'Classical' OI.
conclusionsHere we report on variants in NBAS, as a cause of bone fragility in humans, and expand the phenotypic spectrum associated with NBAS. We explore the mechanism underlying NBAS and the striking skeletal phenotype in our patients.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.