Heterozygous C.175c>t Variant in PURA Gene Causes Severe Developmental Delay
Clinical case reports(2023)
摘要
This case report presents a child with PURA-related neurodevelopmental disorder, caused by the heterozygous pathogenic variant c.175C>T (p.Gln59*), whose symptoms included microcephaly, brachygnathia, the development of a high anterior hairline, hip dysplasia, strabismus, severe hypotonia, developmental delay (non-meaningful verbal), feeding difficulties, and respiratory difficulties. His development ceased with age, such that his development at 10 years corresponded to an infant of 6 months. Moreover, even patients with the same variant can have different clinical symptoms, such as the presence or absence of epilepsy or congenital malformations. Therefore, we should follow his long-term clinical course and provide medical support as necessary.
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关键词
c.175C>T,developmental delay,general medicine,genetics and genomics,hypotonia,non-epilepsy,neurology,pediatric and adolescent medicine,PURA
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