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

Détails

Ressource 1Demande d'une copieTélécharger: BIB_D06FCFC24F20.P001.pdf (1391.51 [Ko])
Etat: Supprimée
Version: Author's accepted manuscript
ID Serval
serval:BIB_D06FCFC24F20
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
Périodique
American Journal of Medical Genetics. Part A
Auteur(s)
Segarra N.G., Ballhausen D., Crawford H., Perreau M., Campos-Xavier B., van Spaendonck-Zwarts K., Vermeer C., Russo M., Zambelli P.Y., Stevenson B., Royer-Bertrand B., Rivolta C., Candotti F., Unger S., Munier F.L., Superti-Furga A., Bonafé L.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
2015
Peer-reviewed
Oui
Volume
167A
Numéro
12
Pages
2902-2912
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Résumé
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.
Mots-clé
Abnormalities, Multiple/etiology, Abnormalities, Multiple/genetics, Child, Child, Preschool, Female, Humans, Immune System/physiopathology, Infant, Liver Diseases/genetics, Male, Mutation, Neoplasm Proteins/genetics, Optic Atrophy/genetics, Pelger-Huet Anomaly/etiology, Pregnancy, Retina/pathology, Skin/pathology
Pubmed
Web of science
Création de la notice
24/09/2015 13:47
Dernière modification de la notice
20/08/2019 15:50
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