Analysis of clinical and gene mutation characteristics in patients of isolated myopathy caused by HNRNPA1 mutation
Year: 2024
Type: article
Study design: Case Report
Abstract: China has no records of HNRNPA1 gene mutations. To analyze the clinical and genetic characteristics of HNRNPA1 gene mutations. The clinical and genetic data of the probands and related members of two pedigrees admitted to the Department of Neurology of First Affiliated Hospital of Fujian Medical University from December 2018 to December 2021 were collected. Clinical characteristics and genetic variation of patients reported in the literature with HNRNPA1 variant were collected. Six patients from the two pedigrees were observed with pure muscular phenotype in this group, absence of bone tissue/motor neuron involvement. One pedigree had late adult-onset progressive myopathy with predominant lower limb weakness and genetic analysis confirmed a heterozygous mutation c.940G>A (p.D314N) in HNRNPA1 gene. Another pedigree had adolescence-onset slowly progressive myopathy with distal upper limb weakness and genetic analysis confirmed a heterozygous mutation c.1064-2A>G in HNRNPA1 gene. Searching the literature, a few patients have been reported abroad. HNRNPA1 gene mutations are linked to a variety of phenotypes. Our findings suggest that mutations in the HNRNPA1 gene are extremely rare and are linked to a variety of phenotypes. Genetic testing is the main diagnostic method for this disease.
Source: Scientia Sinica Vitae
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4401619052