A homozygous mutation in 5′ untranslated region of TNFRSF11A leading to molecular diagnosis of osteopetrosis coinheritance with wiskott-aldrich syndrome

2Citations
Citations of this article
5Readers
Mendeley users who have this article in their library.
Get full text

Abstract

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.

Cite

CITATION STYLE

APA

Chen, T., Sun, J., Liu, G., Yin, C., Liu, H., Qu, L., … Gilad, G. (2021). A homozygous mutation in 5′ untranslated region of TNFRSF11A leading to molecular diagnosis of osteopetrosis coinheritance with wiskott-aldrich syndrome. Journal of Pediatric Hematology/Oncology, 43(2), e264–e267. https://doi.org/10.1097/MPH.0000000000001760

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free