Year: 2026
Type: article
Study design: Case Report
Abstract: PURA syndrome is a rare genetic disease characterized by significant phenotypic variability. This case report presents a 4-day-old female neonate presenting with hypotonia, feeding difficulties, and other symptoms. Following comprehensive clinical examination, including laboratory tests, imaging studies, and genetic analysis, the patient was diagnosed with PURA syndrome. Whole-exome sequencing was performed on blood samples collected from the patient and her parents, revealing a novel PURA gene mutation [c.463C>G (p.Tyr155Ter), NM_005859.5], which had not been previously recorded in the literature. This case report aims to expand the known genotype of PURA syndrome and support clinicians in early detection and diagnosis. Early diagnosis facilitates immediate initiation of targeted swallowing function assessment and rehabilitation training, prevents aspiration pneumonia, and guides families in genetic counseling to avoid recurrence risk.
Source: Frontiers in Pediatrics
Author: Yongxin Wang
Institution: Jieyang People's Hospital
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,801
OpenAlex ID: W7143694187