Final Exon Frameshift Biallelic <i>PTPN23</i> Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia.

ABSTRACT: The hereditary spastic paraplegias (HSPs) are a large clinically heterogeneous group of genetic disorders classified as 'pure' when the cardinal feature of progressive lower limb spasticity and weakness occurs in isolation and 'complex' when associated with other clinical signs. Here, we identify a homozygous frameshift alteration occurring in the last coding exon of the protein tyrosine phosphatase type 23 (PTPN23) gene in an extended Palestinian family associated with autosomal recessive complex HSP. PTPN23 encodes a catalytically inert non-receptor protein tyrosine phosphatase that has been proposed to interact with the endosomal sorting complex required for transport (ESCRT) complex, involved in the sorting of ubiquitinated cargos for fusion with lysosomes. In view of our

SUBMITTER: Khalaf-Nazzal R 

PROVIDER: S-EPMC8151426 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature