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A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome

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...

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Autores principales: Durmaz Çelik, Nazlı, Erzurumluoğlu, Ebru, Özben, Serkan, Toprak, Uğur, Yorulmaz, Göknur, Artan, Sevilhan, Özkan, Serhat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10169457/
https://www.ncbi.nlm.nih.gov/pubmed/37161390
http://dx.doi.org/10.1186/s12920-023-01529-4
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author Durmaz Çelik, Nazlı
Erzurumluoğlu, Ebru
Özben, Serkan
Toprak, Uğur
Yorulmaz, Göknur
Artan, Sevilhan
Özkan, Serhat
author_facet Durmaz Çelik, Nazlı
Erzurumluoğlu, Ebru
Özben, Serkan
Toprak, Uğur
Yorulmaz, Göknur
Artan, Sevilhan
Özkan, Serhat
author_sort Durmaz Çelik, Nazlı
collection PubMed
description 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12920-023-01529-4.
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spelling pubmed-101694572023-05-11 A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome Durmaz Çelik, Nazlı Erzurumluoğlu, Ebru Özben, Serkan Toprak, Uğur Yorulmaz, Göknur Artan, Sevilhan Özkan, Serhat BMC Med Genomics Case Report 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12920-023-01529-4. BioMed Central 2023-05-09 /pmc/articles/PMC10169457/ /pubmed/37161390 http://dx.doi.org/10.1186/s12920-023-01529-4 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Durmaz Çelik, Nazlı
Erzurumluoğlu, Ebru
Özben, Serkan
Toprak, Uğur
Yorulmaz, Göknur
Artan, Sevilhan
Özkan, Serhat
A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome
title A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome
title_full A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome
title_fullStr A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome
title_full_unstemmed A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome
title_short A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome
title_sort novel mutation in rnf216 gene in a turkish case with gordon holmes syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10169457/
https://www.ncbi.nlm.nih.gov/pubmed/37161390
http://dx.doi.org/10.1186/s12920-023-01529-4
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