Heterozygous c.175C>T variant in PURA gene causes severe developmental delay.

ABSTRACT:

Key clinical message

This case report presents a child with PURA-related neurodevelopmental disorder, caused by the heterozygous pathogenic variant c.175C>T (p.Gln59*). The clinical symptoms included microcephaly, brachygnathia, central and peripheral hypotonia, and developmental delay (non-verbal), among others. On comparison with published literature, even patients with the same mutation present different clinical symptoms.

Abstract

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 di

SUBMITTER: Noda Y 

PROVIDER: S-EPMC10483498 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature