A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem
MARÍA ELENA RODRÍGUEZ-GARCÍA FRANCISCO JAVIER COTRINA-VINAGRE ELENA ARRANZ-CANALES ANA MARTÍNEZ DE ARAGÓN LAURA HERNÁNDEZ-SÁNCHEZ FÁTIMA RODRÍGUEZ-FORNÉS PATRICIA CARNICERO-RODRÍGUEZ MONTSERRAT MORALES-CONEJO ELENA MARTÍN-HERNÁNDEZ FRANCISCO MARTÍNEZ-AZORÍN
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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 geneticand phenotypic spectrum associated with PURA gene mutations.
MARÍA ELENA RODRÍGUEZ-GARCÍA1 FRANCISCO JAVIER COTRINA-VINAGRE1 ELENA ARRANZ-CANALES2 ANA MARTÍNEZ DE ARAGÓN3 LAURA HERNÁNDEZ-SÁNCHEZ1 FÁTIMA RODRÍGUEZ-FORNÉS1 PATRICIA CARNICERO-RODRÍGUEZ1 MONTSERRAT MORALES-CONEJO4 ELENA MARTÍN-HERNÁNDEZ4 FRANCISCO MARTÍNEZ-AZORÍN5
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