NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

Segarra, Nuria Garcia and Ballhausen, Diana and Crawford, Heather and Perreau, Matthieu and Campos-Xavier, Belinda and van Spaendonck-Zwarts, Karin and Vermeer, Cees and Russo, Michel and Zambelli, Pierre-Yves and Stevenson, Brian and Royer-Bertrand, Beryl and Rivolta, Carlo and Candotti, Fabio and Unger, Sheila and Munier, Francis L. and Superti-Furga, Andrea and Bonafé, Luisa. (2015) NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. American journal of medical genetics. Part A, 167A (12). pp. 2902-2912.

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We report two unrelated patients with a multisystem disease involving liver, eye, immune system, connective tissue, and bone, caused by biallelic mutations in the neuroblastoma amplified sequence (NBAS) gene. Both presented as infants with recurrent episodes triggered by fever with vomiting, dehydration, and elevated transaminases. They had frequent infections, hypogammaglobulinemia, reduced natural killer cells, and the Pelger-Huët anomaly of their granulocytes. Their facial features were similar with a pointed chin and proptosis; loose skin and reduced subcutaneous fat gave them a progeroid appearance. Skeletal features included short stature, slender bones, epiphyseal dysplasia with multiple phalangeal pseudo-epiphyses, and small C1-C2 vertebrae causing cervical instability and myelopathy. Retinal dystrophy and optic atrophy were present in one patient. NBAS is a component of the synthaxin-18 complex and is involved in nonsense-mediated mRNA decay control. Putative loss-of-function mutations in NBAS are already known to cause disease in humans. A specific founder mutation has been associated with short stature, optic nerve atrophy and Pelger-Huët anomaly of granulocytes (SOPH) in the Siberian Yakut population. A more recent report associates NBAS mutations with recurrent acute liver failure in infancy in a group of patients of European descent. Our observations indicate that the phenotypic spectrum of NBAS deficiency is wider than previously known and includes skeletal, hepatic, metabolic, and immunologic aspects. Early recognition of the skeletal phenotype is important for preventive management of cervical instability.
Faculties and Departments:03 Faculty of Medicine
09 Associated Institutions > Institute of Molecular and Clinical Ophthalmology Basel (IOB)
UniBasel Contributors:Rivolta, Carlo
Item Type:Article, refereed
Article Subtype:Research Article
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:12 Apr 2021 10:45
Deposited On:12 Apr 2021 10:45

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