AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range
European Journal of Medical Genetics(2022)
摘要
•Mutations in genes that encode subunits of the adaptor protein complex 4 (AP-4) can lead to hereditary spastic paraplegias.•Disease-causing variants in the AP4B1 gene have been expanding in a number and geographic range.•Exome sequencing was performed on 7 patients from 3 Azerbaijani and Pakistani families with hereditary spastic paraplegia.•Reported cases expand the clinico-genetic phenotype and geographic range of AP4B1-associated hereditary spastic paraplegia.
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关键词
AP4B1,Spastic paraplegia,Epilepsy,Genetics
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