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| Pàgina inicial > Articles > Articles publicats > Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations : |
(Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) (Hospital Universitario Central de Asturias)| Data: | 2019 |
| Resum: | Background: Perrault syndrome is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing impairment and ovarian dysgenesis in females, whereas males have only hearing impairment. In some cases, patients present with a diversity of neurological signs. To date, mutations in six genes are known to cause Perrault syndrome, but they do not explain all clinically-diagnosed cases. In addition, the number of reported cases and the spectra of mutations are still small to establish conclusive genotype-phenotype correlations. Methods: Affected siblings from family SH19, who presented with features that were suggestive of Perrault syndrome, were subjected to audiological, neurological and gynecological examination. The genetic study included genotyping and haplotype analysis for microsatellite markers close to the genes involved in Perrault syndrome, whole-exome sequencing, and Sanger sequencing of the coding region of the TWNK gene. Results: Three siblings from family SH19 shared similar clinical features: childhood-onset bilateral sensorineural hearing impairment, which progressed to profound deafness in the second decade of life; neurological signs (spinocerebellar ataxia, polyneuropathy), with onset in the fourth decade of life in the two females and at age 20 years in the male; gonadal dysfunction with early cessation of menses in the two females. The genetic study revealed two compound heterozygous pathogenic mutations in the TWNK gene in the three affected subjects: c. 85C. |
| Ajuts: | Instituto de Salud Carlos III FPI17-00534 Instituto de Salud Carlos III CPII14-00029 Instituto de Salud Carlos III CP08-00027 Instituto de Salud Carlos III PI14-00136 Instituto de Salud Carlos III PI14-01162 Instituto de Salud Carlos III PI17-00572 |
| Nota: | Altres ajuts: This research was supported with cofounding from the European Regional Development Fund (ERDF), "A way to make Europe") (to IdC); S2017/BMD-3721-RAREGENOMICS-CM from the Consejería de Educación e Investigación de la Comunidad de Madrid (to MAMP). |
| Drets: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.  |
| Llengua: | Anglès |
| Document: | Article ; recerca ; Versió publicada |
| Matèria: | Ataxia ; Hearing impairment ; Mitochondrial DNA helicase ; Perrault syndrome ; Polyneuropathy ; Premature ovarian failure ; TWNK |
| Publicat a: | Journal of translational medicine, Vol. 17 Núm. 1 (28 2019) , p. 290, ISSN 1479-5876 |
