A Chinese case of Nakajo-Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene.,BMC Medical Genetics

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A Chinese case of Nakajo-Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene.
BMC Medical Genetics Pub Date : 2020-06-08 , DOI: 10.1186/s12881-020-01060-8
Tao Jia ₁ , Yi Zheng ₁ , Cheng Feng ₁ , Tielin Yang ₂ , Songmei Geng ₁

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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.

更新日期：2020-06-08

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