[Clinical and genetic analysis of a child with Spastic paraplegia and psychomotor retardation with or without seizures due to compound heterozygous variants of the HACE1 gene].

The c.535(exon7)_c.538(exon7)delACAG (p.T179fs*5) and c.1678+2(IVS15)T>C compound heterozygous variants of the HACE1 gene probably underlay the pathogenesis of SPPRS in this child. Above discovery has enriched the mutational and phenotypic spectrum of the HACE1 gene and provided a reference for clinical diagnosis and genetic counseling.

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Publication Details

Journal
PubMed
Published
2025-02-10
DOI
https://doi.org/10.3760/cma.j.cn511374-20240508-00278
Primary Topic
Neurogenetic and Muscular Disorders Research
Type
article
Field-Weighted Citation Impact
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article

[Clinical and genetic analysis of a child with Spastic paraplegia and psychomotor retardation with or without seizures due to compound heterozygous variants of the HACE1 gene].

Z. Chen, Xiaoke Zhao, Xiaoyan Xuan
PubMed
Neurogenetic and Muscular Disorders Research
article

[Clinical and genetic analysis of a child with Spastic paraplegia and psychomotor retardation with or without seizures due to compound heterozygous variants of the HACE1 gene].

Z. Chen, Xiaoke Zhao, Xiaoyan Xuan
article en

Abstract

The c.535(exon7)_c.538(exon7)delACAG (p.T179fs*5) and c.1678+2(IVS15)T>C compound heterozygous variants of the HACE1 gene probably underlay the pathogenesis of SPPRS in this child. Above discovery has enriched the mutational and phenotypic spectrum of the HACE1 gene and provided a reference for clinical diagnosis and genetic counseling.

PubMedVol. 42(2)
Nanjing Children's Hospital (CN)
Openalex Percentile: Top 85%
Neurogenetic and Muscular Disorders Research
DOISourceOpenAlex
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[Clinical and genetic analysis of a child with Spastic paraplegia and psychomotor retardation with or without seizures due to compound heterozygous variants of the HACE1 gene]. — Z. Chen, Xiaoke Zhao, et al. · PubMed (2025) | TGRS Research Map | TGRS