[Tatton-Brown-Rahman Syndrome: Case report and DNMT3A variant not previously reported associated to the syndrome].

Unlabelled: Tatton Brown Rahman Syndrome (TBRS) is a recently described overgrowth syndrome caused by variants in the DNMT3A gene. The description of its phenotype and the differences with its main differential diagnoses are still under development, with very few individuals of Latin American origin described to date.

Objective: To describe a Chilean case of TBRS in order to broaden the phenotypic and genotypic spectrum of this new syndrome.

Autosomal Recessive Cerebellar Ataxia 1: First Case Report Depicting a Variant in SYNE1 Gene in a Chilean Patient.

Autosomal recessive cerebellar ataxia type 1 (ARCA-1) or spinocerebellar ataxia autosomal recessive type 8 (SCAR8) is a slowly progressive neurodegenerative disorder that occurs due to mutations in the spectrin repeat containing nuclear envelope protein 1 (SYNE1) gene. Previously considered a rare cause of ARCA, related to French-Canadian patients from Beauce, Quebec, Canada, SYNE1 ataxia is now known to be of worldwide distribution. We present the case report of a 54-year-old male patient with the genetic diagnosis of SYNE1 ataxia, presenting with a SYNE1 gene mutation never described in Chilean population before.