PuSH - Publikationsserver des Helmholtz Zentrums München: Inherited <em>PURA</em> pathogenic variant associated with a mild neurodevelopmental disorder.

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Hildebrand, M.S.* ; Braden, R.O.* ; Lauretta, M.L.* ; Kaspi, A.* ; Leventer, R.J.* ; Anderson, M.C.* ; Goel, H.* ; Bahlo, M.* ; Scheffer, I.E.* ; Amor, D.J.* ; Janowski, R. ; Niessing, D. ; Morgan, A.T.*

Inherited PURA pathogenic variant associated with a mild neurodevelopmental disorder.

Neurol. Genet. 10:e200181 (2024)

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OBJECTIVES: Purine-rich element-binding protein alpha (PURA) regulates gene expression and is ubiquitously expressed with an enrichment in neural tissues. Pathogenic variants in PURA cause the neurodevelopmental disorder PURA syndrome that has a variable phenotype but typically comprises moderate-to-severe global developmental delay, intellectual disability, early-onset hypotonia and hypothermia, epilepsy, feeding difficulties, movement disorders, and subtle facial dysmorphism. Speech is reportedly absent in most, but the specific linguistic phenotype is not well described. METHODS: We used genome sequencing to identify a pathogenic gene variant as part of a study of children ascertained for severe primary speech disorder in the absence of moderate or severe ID. RESULTS: The novel PURA c.296G>T (p.Arg99Leu) pathogenic missense variant segregated in the female proband and her affected mother. The proband had dysarthria; phonological disorder; and severe receptive and expressive language impairment, borderline intellect, attention difficulties, oropharyngeal dysmotility, and dysmorphic facial features. Her mother had dysarthria, moderate receptive language impairment, and borderline intellect. Both the proband and her mother completed mainstream schooling with classroom support. DISCUSSION: This is the first inherited PURA pathogenic germline variant in over 600 unrelated families documented on ClinVar or reported in the literature. PURA testing should be considered in families with primary speech disorder and borderline intellectual disability, given the specific genetic counseling implications.

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