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https://www.ias.ac.in/article/fulltext/jgen/099/0007

PURA gene; whole-exome sequence; brainstem; hypotonia; developmental delay; epilepsy.

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

1. Laboratorio de Enfermedades Mitocondriales, Instituto de InvestigaciÓn Hospital 12 de Octubre (i+12), 28041 Madrid, Spain
2. Departamento de Medicina Interna, Hospital 12 de Octubre, 28041 Madrid, Spain
3. Servicio de Radiología, SecciÓn de Neurorradiología, Hospital 12 de Octubre, 28041 Madrid, Spain
4. Unidad Pediá trica de Enfermedades Raras, Enfermedades Mitocondriales y MetabÓlicas Hereditarias, Hospital 12 de Octubre, 28041 Madrid, Spain
5. Centro de InvestigaciÓn Biomédica en Red de Enfermedades Raras (CIBERER), U723, 28041 Madrid, Spain

Published

10 January 2020

Manuscript received

19 August 2019

Manuscript revised

15 October 2019

Accepted

28 November 2019