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A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.
Durmaz Çelik, Nazli; Erzurumluoglu, Ebru; Özben, Serkan; Toprak, Ugur; Yorulmaz, Göknur; Artan, Sevilhan; Özkan, Serhat.
Afiliación
  • Durmaz Çelik N; Department of Neurology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey. doktornazli@hotmail.com.
  • Erzurumluoglu E; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
  • Özben S; Department of Neurology, University of Health Sciences, Antalya Training and Research Hospital, Antalya, Turkey.
  • Toprak U; Department of Radiology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
  • Yorulmaz G; Department of Endocrinology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
  • Artan S; Department of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
  • Özkan S; Department of Neurology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.
BMC Med Genomics ; 16(1): 98, 2023 05 09.
Article en En | MEDLINE | ID: mdl-37161390
BACKGROUND: Gordon Holmes syndrome (GHS) is a rare autosomal recessive disorder characterized by hypogonadotropic hypogonadism, cognitive decline, and cerebellar ataxia. Mutations in the Ring Finger Protein 216 (RNF216) gene have been known to be associated with GHS therewithal RNF216 mutations have been detected in cases with Huntington-like disease, 4H syndrome (hypodontia, hypomyelination, ataxia and hypogonadotropic hypogonadism), and congenital hypogonadotropic hypogonadism. CASE PRESENTATION: Here we report a novel homozygous frameshift mutation in RNF216 gene c.1860_1861dupCT (p.Cys621SerfsTer56) in a patient with hypogonadotropic hypogonadism, ataxia, and cognitive decline diagnosed with GHS also co-occurrence of parkinsonism and dystonia which was not reported before. CONCLUSIONS: We report an extremely rare case of GHS. The core features of GHS are well defined, but genotype-phenotype correlations are still limited. To understand the pathophysiology of different phenotypes, the type and localization of novel mutations need to be defined, and the effect of these different variants on clinical features needs to be determined. Further studies should explain the factors of phenotypic variability present in GHS patients with RNF216 mutations.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Síndrome de Klinefelter Límite: Humans Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ataxia Cerebelosa / Síndrome de Klinefelter Límite: Humans Idioma: En Revista: BMC Med Genomics Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Reino Unido