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Article

Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia.

Genes - 23 Nov 2022

Kovalskaia Valeriia A, Zabnenkova Victoriia V, Petukhova Marina S, Markova Zhanna G, Tabakov Vyacheslav Yu, Ryzhkova Oxana P

Abstract excerpt

Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS, OMIM 616756) is a rare genetic disease caused by biallelic pathogenic variants in the HACE1 gene. Originally, these mutations have been reported to be implicated in tumor predisposition. Nonetheless, via whole exome sequencing in 2015, HACE1 mutations were suggested to be the cause of a new autosomal recessive neurodevelopmental...

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Identifiers

PMID: 36553453
DOI: 10.3390/genes13122186
PMCID: PMC9778407

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