A Homozygous Mutation in 5' Untranslated Region of TNFRSF11A Leading to Molecular Diagnosis of Osteopetrosis Coinheritance With Wiskott-Aldrich Syndrome.
Journal
Journal of pediatric hematology/oncology
ISSN: 1536-3678
Titre abrégé: J Pediatr Hematol Oncol
Pays: United States
ID NLM: 9505928
Informations de publication
Date de publication:
01 03 2021
01 03 2021
Historique:
received:
14
09
2019
accepted:
30
01
2020
pubmed:
26
2
2020
medline:
7
4
2021
entrez:
26
2
2020
Statut:
ppublish
Résumé
Wiskott-Aldrich syndrome (WAS) and osteopetrosis are 2 different, rare hereditary diseases. Here we report clinical and molecular genetics investigations on an infant patient with persistent thrombocytopenia and prolonged fever. He was clinical diagnosed as osteopetrosis according to clinical presentation, radiologic skeletal features, and bone biopsy results. Gene sequencing demonstrated a de novo homozygous mutation in 5'-untranslated region of TNFRSF11A, c.-45A>G, which is relating to osteopetrosis. Meanwhile, a hemizygous transition mutation in WAS gene, c.400G>A diagnosed the infant with WAS. This is the first clinical report for the diagnosis of osteopetrosis coinheritance with WAS in a single patient.
Identifiants
pubmed: 32097281
pii: 00043426-202103000-00039
doi: 10.1097/MPH.0000000000001760
pmc: PMC7993917
doi:
Substances chimiques
5' Untranslated Regions
0
Receptor Activator of Nuclear Factor-kappa B
0
TNFRSF11A protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e264-e267Informations de copyright
Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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