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Article

Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report.

BMC medical genetics - 14 Mar 2020

Ruan Wen-Cong, Wang Jia, Yu Yong-Lin, Che Yue-Ping, Ding Li, Li Chen-Xi, Wang Xiao-Dong, Li Hai-Feng

Abstract excerpt

INTRODUCTION: The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal recessive spastic paraplegia-47(SPG47). CASE PRESENTATION: Here we present a Chinese patient with spastic tetraplegia, moderate psychomotor development delay and febrile seizures plus. Brain...

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PMID: 32171285
DOI: 10.1186/s12881-020-0988-3
PMCID: PMC7071676

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