A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem

被引:0
作者
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
机构
[1] Instituto de Investigación Hospital 12 de Octubre (i+12),Laboratorio de Enfermedades Mitocondriales
[2] Hospital 12 de Octubre,Departamento de Medicina Interna
[3] Hospital 12 de Octubre,Servicio de Radiología, Sección de Neurorradiología
[4] Hospital 12 de Octubre,Unidad Pediátrica de Enfermedades Raras, Enfermedades Mitocondriales y Metabólicas Hereditarias
[5] Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER),undefined
[6] U723,undefined
来源
Journal of Genetics | 2020年 / 99卷
关键词
gene; whole-exome sequence; brainstem; hypotonia; developmental delay; epilepsy.;
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摘要
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.
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