Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness
Background: Congenital deafness could be the first manifestation of a syndrome such as in Usher, Pendred, and Wolfram syndromes. Therefore, a genetic study is crucial in this deficiency to significantly improve its diagnostic efficiency, to predict the prognosis, to select the most adequate treatmen...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-10-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.998898/full |
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| author | Laura Alías Laura Alías Miguel López de Heredia Sabina Luna Núria Clivillé Lídia González-Quereda Lídia González-Quereda Pía Gallano Pía Gallano Júlia de Juan Albert Pujol Santiago Diez Susana Boronat César Orús Adriana Lasa Adriana Lasa María del Prado Venegas |
| author_facet | Laura Alías Laura Alías Miguel López de Heredia Sabina Luna Núria Clivillé Lídia González-Quereda Lídia González-Quereda Pía Gallano Pía Gallano Júlia de Juan Albert Pujol Santiago Diez Susana Boronat César Orús Adriana Lasa Adriana Lasa María del Prado Venegas |
| author_sort | Laura Alías |
| collection | DOAJ |
| description | Background: Congenital deafness could be the first manifestation of a syndrome such as in Usher, Pendred, and Wolfram syndromes. Therefore, a genetic study is crucial in this deficiency to significantly improve its diagnostic efficiency, to predict the prognosis, to select the most adequate treatment required, and to anticipate the development of other associated clinical manifestations.Case presentation: We describe a young girl with bilateral congenital profound deafness, who initially received a single cochlear implant. The genetic study of her DNA using a custom-designed next-generation sequencing (NGS) panel detected a de novo pathogenic heterozygous variant in the WFS1 gene related to Wolfram-like syndrome, which is characterized by the presence of other symptoms such as optic atrophy. Due to this diagnosis, a second implant was placed after the optic atrophy onset. The speech audiometric results obtained with both implants indicate that this work successfully allows the patient to develop normal speech. Deterioration of the auditory nerves has not been observed.Conclusion: The next-generation sequencing technique allows a precise molecular diagnosis of diseases with high genetic heterogeneity, such as hereditary deafness, while this was the only symptom presented by the patient at the time of analysis. The NGS panel, in which genes responsible for both syndromic and non-syndromic hereditary deafness were included, was essential to reach the diagnosis in such a young patient. Early detection of the pathogenic variant in the WFS1 gene allowed us to anticipate the natural evolution of the disease and offer the most appropriate management to the patient. |
| first_indexed | 2024-04-12T12:30:31Z |
| format | Article |
| id | doaj.art-07967e7b974044478f2e4457b6a25004 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-12T12:30:31Z |
| publishDate | 2022-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-07967e7b974044478f2e4457b6a250042022-12-22T03:33:03ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-10-011310.3389/fgene.2022.998898998898Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafnessLaura Alías0Laura Alías1Miguel López de Heredia2Sabina Luna3Núria Clivillé4Lídia González-Quereda5Lídia González-Quereda6Pía Gallano7Pía Gallano8Júlia de Juan9Albert Pujol10Santiago Diez11Susana Boronat12César Orús13Adriana Lasa14Adriana Lasa15María del Prado Venegas16Genetics Department, IIB Sant Pau, Hospital de la Santa Creu I Sant Pau, Barcelona, SpainU705—Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, SpainCentre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, SpainOphthalmology Department, Hospital de la Santa Creu I Sant Pau, Barcelona, SpainGenetics Department, IIB Sant Pau, Hospital de la Santa Creu I Sant Pau, Barcelona, SpainGenetics Department, IIB Sant Pau, Hospital de la Santa Creu I Sant Pau, Barcelona, SpainU705—Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, SpainGenetics Department, IIB Sant Pau, Hospital de la Santa Creu I Sant Pau, Barcelona, SpainU705—Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, SpainOtorhinolaringologyst Department, Hospital de la Santa Creu I Sant Pau, Barcelona, SpainOtorhinolaringologyst Department, Hospital de la Santa Creu I Sant Pau, Barcelona, SpainOtorhinolaringology Department, Hospital Esperit Sant, Santa Coloma de Gramenet, SpainChild Neurology Unit, Hospital de la Santa Creu I Sant Pau, Barcelona, SpainOtorhinolaringologyst Department, Hospital de la Santa Creu I Sant Pau, Barcelona, SpainGenetics Department, IIB Sant Pau, Hospital de la Santa Creu I Sant Pau, Barcelona, SpainU705—Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, SpainOtorhinolaringologyst Department, Hospital de la Santa Creu I Sant Pau, Barcelona, SpainBackground: Congenital deafness could be the first manifestation of a syndrome such as in Usher, Pendred, and Wolfram syndromes. Therefore, a genetic study is crucial in this deficiency to significantly improve its diagnostic efficiency, to predict the prognosis, to select the most adequate treatment required, and to anticipate the development of other associated clinical manifestations.Case presentation: We describe a young girl with bilateral congenital profound deafness, who initially received a single cochlear implant. The genetic study of her DNA using a custom-designed next-generation sequencing (NGS) panel detected a de novo pathogenic heterozygous variant in the WFS1 gene related to Wolfram-like syndrome, which is characterized by the presence of other symptoms such as optic atrophy. Due to this diagnosis, a second implant was placed after the optic atrophy onset. The speech audiometric results obtained with both implants indicate that this work successfully allows the patient to develop normal speech. Deterioration of the auditory nerves has not been observed.Conclusion: The next-generation sequencing technique allows a precise molecular diagnosis of diseases with high genetic heterogeneity, such as hereditary deafness, while this was the only symptom presented by the patient at the time of analysis. The NGS panel, in which genes responsible for both syndromic and non-syndromic hereditary deafness were included, was essential to reach the diagnosis in such a young patient. Early detection of the pathogenic variant in the WFS1 gene allowed us to anticipate the natural evolution of the disease and offer the most appropriate management to the patient.https://www.frontiersin.org/articles/10.3389/fgene.2022.998898/fullWFS1 genecongenital hearing lossNGSWolfram-like syndromeoptic atrophy |
| spellingShingle | Laura Alías Laura Alías Miguel López de Heredia Sabina Luna Núria Clivillé Lídia González-Quereda Lídia González-Quereda Pía Gallano Pía Gallano Júlia de Juan Albert Pujol Santiago Diez Susana Boronat César Orús Adriana Lasa Adriana Lasa María del Prado Venegas Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness Frontiers in Genetics WFS1 gene congenital hearing loss NGS Wolfram-like syndrome optic atrophy |
| title | Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness |
| title_full | Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness |
| title_fullStr | Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness |
| title_full_unstemmed | Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness |
| title_short | Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness |
| title_sort | case report de novo pathogenic variant in wfs1 causes wolfram like syndrome debuting with congenital bilateral deafness |
| topic | WFS1 gene congenital hearing loss NGS Wolfram-like syndrome optic atrophy |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.998898/full |
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