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Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.

Human genomics - 11 Feb 2026

Yousaf Hammad, Ali Sajid, Moulvi Ahad Yousuf, Khalid Lubaba Bintee, Javed Iram, Ghumman Rafia Zafar, Colson Cindy, Ibrahim Shahnaz, Zia Salma, Khan Muhammad Musawer, Brunelle Perrine, Trujillo-Quintero Juan Pablo, Ruiz Anna, Kirmani Salman, Houlden Henry, Toft Mathias, Fatima Ambrin, Iqbal Zafar

Abstract excerpt

BACKGROUND: HACE1 encodes a HECT domain and ankyrin repeat containing protein regulating several small GTPases. This protein is involved in several important functions, such as cell division, protein ubiquitination, and localization. Biallelic variants in HACE1 have been implicated in spastic paraplegia and psychomotor retardation with or without seizures (MIM: 616756). Previously, 32 patients of various...

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PMID: 41673897
DOI: 10.1186/s40246-026-00914-1
PMCID: PMC12997817

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