Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder
Objectives: The aim of this paper was to study the auditory phenotype of three related children with sensorineural hearing loss (2 sisters and their cousin) following genetic analysis revealing mutations in LOXHD1. Methods: Genetic testing was conducted on three related children. They were assessed...
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| Format: | Article |
| Language: | English |
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Elsevier
2021-11-01
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| Series: | Otolaryngology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2468548821001089 |
| _version_ | 1818701382239125504 |
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| author | T. Morlet KM. Robbins D. Stabley J. Holbrook K. Sol-Church RC. O'Reilly |
| author_facet | T. Morlet KM. Robbins D. Stabley J. Holbrook K. Sol-Church RC. O'Reilly |
| author_sort | T. Morlet |
| collection | DOAJ |
| description | Objectives: The aim of this paper was to study the auditory phenotype of three related children with sensorineural hearing loss (2 sisters and their cousin) following genetic analysis revealing mutations in LOXHD1. Methods: Genetic testing was conducted on three related children. They were assessed with a standard clinical test battery including distortion otoacoustic emissions, auditory brainstem responses and audiometry. Results: We identified heterozygous variants in LOXHD1 in a family of Irish/German and Italian/Irish ancestry with autosomal recessive auditory neuropathy spectrum disorder (ANSD). Mutations in LOXHD1 (MIM #613072) have been linked to an autosomal recessive nonsyndromic hearing loss (DFNB77), mapped to the locus 18q12-q21. All three subjects had evidence of some, albeit few, functioning cochlear hair cells as revealed by the presence of a cochlear microphonic and/or partial otoacoustic emissions early in life. Conclusion: To our knowledge, this is the first association between LOXHD1 mutations and ANSD in two patients who have been successfully managed with cochlear implants. |
| first_indexed | 2024-12-17T15:19:57Z |
| format | Article |
| id | doaj.art-d369e8b7e19c48938db7ac963b4d580c |
| institution | Directory Open Access Journal |
| issn | 2468-5488 |
| language | English |
| last_indexed | 2024-12-17T15:19:57Z |
| publishDate | 2021-11-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Otolaryngology Case Reports |
| spelling | doaj.art-d369e8b7e19c48938db7ac963b4d580c2022-12-21T21:43:26ZengElsevierOtolaryngology Case Reports2468-54882021-11-0121100367Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorderT. Morlet0KM. Robbins1D. Stabley2J. Holbrook3K. Sol-Church4RC. O'Reilly5Nemours Biomedical Research Department, Alfred I. duPont Hospital for Children, Wilmington, DE, 19803, USA; Department of Linguistics and Cognitive Science, University of Delaware, Newark, DE, 19803, USA; Communication Sciences and Disorders, College of Health Sciences, University of Delaware, Newark, DE, 19803, USA; Osborne College of Audiology, Salus University, Elkins Park, PA, 19027, USA; Corresponding author. Alfred I. duPont Hospital for Children, Center for Pediatric Auditory and Speech Sciences, 1701 Rockland Road, Wilmington, DE, 19803, USA.Nemours Biomedical Research Department, Alfred I. duPont Hospital for Children, Wilmington, DE, 19803, USANemours Biomedical Research Department, Alfred I. duPont Hospital for Children, Wilmington, DE, 19803, USANemours Biomedical Research Department, Alfred I. duPont Hospital for Children, Wilmington, DE, 19803, USADepartment of Pathology, University of Virginia School of Medicine, Charlottesville, VA, 22908, USADivision of Otolaryngology, Children's Hospital of Philadelphia, 3401 Civic Center Blvd. Philadelphia, PA, 19104, USAObjectives: The aim of this paper was to study the auditory phenotype of three related children with sensorineural hearing loss (2 sisters and their cousin) following genetic analysis revealing mutations in LOXHD1. Methods: Genetic testing was conducted on three related children. They were assessed with a standard clinical test battery including distortion otoacoustic emissions, auditory brainstem responses and audiometry. Results: We identified heterozygous variants in LOXHD1 in a family of Irish/German and Italian/Irish ancestry with autosomal recessive auditory neuropathy spectrum disorder (ANSD). Mutations in LOXHD1 (MIM #613072) have been linked to an autosomal recessive nonsyndromic hearing loss (DFNB77), mapped to the locus 18q12-q21. All three subjects had evidence of some, albeit few, functioning cochlear hair cells as revealed by the presence of a cochlear microphonic and/or partial otoacoustic emissions early in life. Conclusion: To our knowledge, this is the first association between LOXHD1 mutations and ANSD in two patients who have been successfully managed with cochlear implants.http://www.sciencedirect.com/science/article/pii/S2468548821001089Auditory neuropathyLOXHD1Cochlear microphonicCochlear implants |
| spellingShingle | T. Morlet KM. Robbins D. Stabley J. Holbrook K. Sol-Church RC. O'Reilly Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder Otolaryngology Case Reports Auditory neuropathy LOXHD1 Cochlear microphonic Cochlear implants |
| title | Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder |
| title_full | Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder |
| title_fullStr | Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder |
| title_full_unstemmed | Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder |
| title_short | Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder |
| title_sort | mutations in loxhd1 gene can cause auditory neuropathy spectrum disorder |
| topic | Auditory neuropathy LOXHD1 Cochlear microphonic Cochlear implants |
| url | http://www.sciencedirect.com/science/article/pii/S2468548821001089 |
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