ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Phenotype and Long-Term Outcome in Recurrent Paediatric Acute Liver Failure: Systematic Review and Individual Participant Data Analysis.Liver international : official journal of the International Association for the Study of the Liver · 2025Pooled it
- Clinical and molecular findings in two siblings with neuroblastoma-amplified sequence (NBAS) deficiency corroborates a more severe phenotype for compound-heterozygous truncating and splice variants inMolecular genetics and metabolism reports · 2026Article
- Pathomechanism of Fever-Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC-Observations In Vitro and In Vivo.Liver international : official journal of the International Association for the Study of the Liver · 2026Article
- The Impact of Genetic Factors in Ménière's Disease.International journal of molecular sciences · 2026Review
- A novel compound heterozygous NBAS variant with HLH and multisystem involvement: expanding the clinical spectrum and literature review.Frontiers in immunology · 2026Review
- Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in Germany.Journal of pediatric gastroenterology and nutrition · 2025Article
- Diabetes mellitus and the key role of endoplasmic reticulum stress in pancreatic β cells.Nature reviews. Endocrinology · 2025Review
- 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
- RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.Molecular genetics and metabolism · 2025Article
- [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
- Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.Journal of inherited metabolic disease · 2025Review
- Recurrent fever-associated acute liver failure and cranial dysmorphism in children caused by RINT1 gene mutations: a rare case report.Frontiers in pediatrics · 2025Article
- A novel splicing variant inFrontiers in genetics · 2025Article
- Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders.Journal of inherited metabolic disease · 2025Article
- Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study.Journal of medical Internet research · 2024Article
- The role of syntaxins in retinal function and health.Frontiers in cellular neuroscience · 2024Review
- Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities.Molecular genetics and metabolism · 2023Review
- Translation-coupled mRNA quality control mechanisms.The EMBO journal · 2023Review
- Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants inJIMD reports · 2023Article
- A novel variant in NBAS identified from an infant with fever-triggered recurrent acute liver failure disrupts the function of the gene.Human genome variation · 2023Article
Corrections and comments
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Authors and funding
51 authors.
Funding
Abstract
purposePathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system, and brain, among others. There is a continuously growing number of patients but a lack of systematic and quantitative analysis.
methodsIndividuals with biallelic variants in NBAS were recruited within an international, multicenter study, including novel and previously published patients. Clinical variables were analyzed with log-linear models and visualized by mosaic plots; facial profiles were investigated via DeepGestalt. The structure of the NBAS protein was predicted using computational methods.
resultsOne hundred ten individuals from 97 families with biallelic pathogenic NBAS variants were identified, including 26 novel patients with 19 previously unreported variants, giving a total number of 86 variants. Protein modeling redefined the β-propeller domain of NBAS. Based on the localization of missense variants and in-frame deletions, three clinical subgroups arise that differ significantly regarding main clinical features and are directly related to the affected region of the NBAS protein: β-propeller (combined phenotype), Sec39 (infantile liver failure syndrome type 2/ILFS2), and C-terminal (short stature, optic atrophy, and Pelger-Huët anomaly/SOPH).
conclusionWe define clinical subgroups of NBAS-associated disease that can guide patient management and point to domain-specific functions of NBAS.
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