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

BMC Medical Genetics
Tao JiaSongmei Geng

Abstract

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. 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. We reported novel compound heterozygous mutations in PSMB8 in a sporadic Chinese NNS patient.

References

Feb 18, 2010·Journal of the American Academy of Dermatology·Antonio TorreloAmy S Paller
Sep 2, 2011·The Journal of Clinical Investigation·Akiko KitamuraKoji Yasutomo
Mar 24, 2012·Allergology International : Official Journal of the Japanese Society of Allergology·Nobuo Kanazawa
Jun 19, 2013·Journal of the American Academy of Dermatology·Amelia McDermottLing Gao
Aug 15, 2013·Dermatology : International Journal for Clinical and Investigative Dermatology·Kayo KunimotoNobuo Kanazawa
May 7, 2019·The Journal of Dermatology·Kayo KunimotoNobuo Kanazawa

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsy
exome sequencing

Software Mentioned

Mutation Taster
SIFT
Provean
CANDLE
Polyphen
REVEL
- 2
NNS

Related Concepts

Related Feeds

Basal Ganglia

Basal Ganglia are a group of subcortical nuclei in the brain associated with control of voluntary motor movements, procedural and habit learning, emotion, and cognition. Here is the latest research.