A novel mutation in <i>RNF216</i> gene in a Turkish case with Gordon Holmes syndrome

Durmaz Çelik N., Erzurumluoğlu E., Özben S., Toprak U., Yorulmaz G., Artan S., ...Daha Fazla

BMC MEDICAL GENOMICS, cilt.16, sa.1, 2023 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 16 Sayı: 1
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1186/s12920-023-01529-4
  • Dergi Adı: BMC MEDICAL GENOMICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE, Directory of Open Access Journals
  • Anahtar Kelimeler: Cerebellar ataxia, Gordon Holmes syndrome, Hypogonadotropic hypogonadism, RNF216
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

BackgroundGordon 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 presentationHere 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.ConclusionsWe 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.