info:eu-repo/semantics/article
Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings
Fecha
2019-03Registro en:
Calandra, Cristian R.; Mocarbel, Yamile; Vishnopolska, Sebastián Alexis; Toneguzzo, Vanessa; Oliveri, Jaen Natalia; et al.; Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings; Wiley Blackwell Publishing, Inc; Movement Disorders Clinical Practice; 6; 3; 3-2019; 259-262
2330-1619
CONICET Digital
CONICET
Autor
Calandra, Cristian R.
Mocarbel, Yamile
Vishnopolska, Sebastián Alexis
Toneguzzo, Vanessa
Oliveri, Jaen Natalia
Cazado, Enrique Carlos
Biagioli, German
Turjanski, Adrian
Marti, Marcelo Adrian
Resumen
Gordon Holmes syndrome (GHS) is the clinical association of ataxia and hypogonadism1 frequently encountered in patients with autosomal-recessive cerebellar ataxias. Mutations in genes, such as RNF216, OTUD4, STUB1, PNPLA6, and POL- R3A/3B/1C, are associated with ataxia and hypogonadism,2–6 but the patient’s observed phenotypes are generally wider than expected. Here, we report the case of 2 Argentinean siblings with GHS caused by a novel homozygous mutation in the RNF216 gene.