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Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation

Alqwaifly, Mohammed ; Bohlega, Saeed

Neurology international, 2016-06, Vol.8 (2), p.6444-6444 [Periódico revisado por pares]

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Título:
Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation
Autor: Alqwaifly, Mohammed ; Bohlega, Saeed
Assuntos: Ataxia ; Case Report ; cerebellar ataxia ; Gordon Holmes ; hypogonadotropic hypogonadism ; Mutation ; RNF216
É parte de: Neurology international, 2016-06, Vol.8 (2), p.6444-6444
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
Contributions: the authors contributed equally.
Conflict of interest: the authors declare no potential conflict of interest.
Descrição: Gordon Holmes syndrome (GHS) is a distinct phenotype of autosomal recessive cerebellar ataxia, characterized by ataxia, dementia, reproductive defects and hypogonadism; it has been recently found to be associated with RNF216 mutation. We performed whole-exome sequencing and filtered the resulting novel variants by the coordinates of the shared autozygome. We identified a novel splicing variant in RNF216 that is likely to abolish the canonical splice site at the junction of exon/intron 13 (NM_207111.3:c.2061G>A). We herein report two patients with GHS caused by a novel RNF216 mutation as the first follow up report on RNF216-related GHS, and show interfamilial variability of phenotype supporting the previously reported RNF216-related cases.
Editor: Italy: MDPI AG
Idioma: Inglês

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