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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2020

Open Access 01-12-2020 | Autoinflammatory Diseases | Case report

A Chinese case of Nakajo–Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene

Authors: Tao Jia, Yi Zheng, Cheng Feng, Tielin Yang, Songmei Geng

Published in: BMC Medical Genetics | Issue 1/2020

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Abstract

Background

Nakajo-Nishimura syndrome (NNS) is an autosomal recessive heredity disorder, one of a spectrum of autoinflammatory diseases named proteasome-associated autoinflammatory syndrome (PRAAS) caused by mutations of PSMB8 gene. NNS is characterized by pernio-like skin rashes, intermittent fever, and long clubbed fingers and toes with joint contractures, partially with progressive lipomuscular atrophy, emaciation, hepatosplenomegaly and basal ganglion calcification.

Case presentation

We presented a sporadic case of NNS with compound heterozygous mutations in the PSMB8 gene. The 4-year-old boy was affected by progressive erythematous plaques on his nose and gradually involved hands and feet later with characteristic appearance of long clubbed fingers. The repetitive periodic intermittent fever was recorded. By gene sequencing, novel compound heterozygous mutations c.373C > T (p.R125C) and c.355G > A (p.D119N) in the PSMB8 gene were found. The patient responded well to low dosage of oral methylprednisolone.

Conclusions

We reported novel compound heterozygous mutations in PSMB8 in a sporadic Chinese NNS patient.
Literature
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Metadata
Title
A Chinese case of Nakajo–Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene
Authors
Tao Jia
Yi Zheng
Cheng Feng
Tielin Yang
Songmei Geng
Publication date
01-12-2020
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2020
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/s12881-020-01060-8

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