Abstract:
Background PURA syndrome is an autosomal dominant genetic disease caused by PURA gene variation, which is mostly found in the neonatal period. There are few reports about PURA syndrome in China.
Objective To investigate the clinical phenotype and genetic characteristics of patients with PURA syndrome caused by PURA gene variation.
Methods Clinical data about one patient with PURA syndrome admitted to Chinese PLA General Hospital in June 2022 were retrospectively analyzed, and the reported clinical and genetic characteristics of patients with PURA syndrome were reviewed.
Results The patient presented hypotonia and developmental delay after birth, and the gene test indicated PURA gene variation, c.463T＞C p.Y155H (NM_005859.4), de novo variation, which was diagnosed as PURA syndrome. After rehabilitation treatment, the development of the patient made more progress than before. A total of 160 cases of PURA syndrome were reported. Among them, two cases were reported in China. Its clinical phenotypes were commonly seen in developmental delay, hypotonia, feeding difficulties, lethargy, facial deformable features, epilepsy, etc., and there was no genotype-phenotype correlation.
Conclusion PURA syndrome usually starts in the neonatal period. For neonatus with hypotonia, feeding difficulties, lethargy and so on in the neonatal period, we should consider the possibility of PURA gene variation, and genetic testing and genetic counseling should be done as soon as possible.
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