A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem
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Date
2020-01
Journal Title
Journal ISSN
Volume Title
Publisher
Indian Academy of Sciences
Abstract
We report the case of a Caucasian Spanish boy, who showed profound neonatal hypotonia, feeding difficulties, apnea, severe developmental delay, epilepsy, bilateral convergent strabismus, poor verbal language development and a large brainstem. Whole-exome sequence uncovered a novel de novo mutation in the purine-rich element binding protein A gene (PURA; NM_005859.4:c.72del:p.(- Gly25AlafsTer53)) that encodes the transcriptional activator protein Pur-alpha (PURA). Mutations in this gene have been identified in patients with PURA syndrome, a rare disorder characterized by an early hypotonia, developmental delay, severe intellectual disability with or without epilepsy, and disability in expressive language development. Although, up to 75 cases have been identified worldwide, to the best of our knowledge, this is the first patient described with a brainstem larger than normal. In conclusion, our data expand both genetic and phenotypic spectrum associated with PURA gene mutations.
Description
Keywords
PURA gene, whole-exome sequence, brainstem, hypotonia, developmental delay, epilepsy.
Citation
A Mari´A Elena Rodri´Guez-Garci, Cotrina-Vinagre Francisco Javier, Arranz-Canales Elena, Arago´ N Ana Marti´Nez De, Laura Herna´ Ndez-Sa´ Nchez , S Fa´Tima Rodri´Guez-Forne´, Guez Patricia Carnicero-Rodri, Morales-Conejo Montserrat, Ndez Elena Marti´N-Herna, N Francisco Marti´Nez Azori. A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem. Journal of Genetics. 2020 Jan; 99: 1-5