1. ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis
- Author
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Crystel Bonnet, Sonia Talbi, Christine Petit, Fatima Ammar-Khodja, Merieme Djebbar, Farid Boudjenah, Malika Dahmani, Sofiane Ouhab, Université des Sciences et de la Technologie Houari Boumediene = University of Sciences and Technology Houari Boumediene [Alger] (USTHB), Établissement Public Hospitalier Bachir Mentouri, Service ORL [Tizi Ouzou], Centre Hospitalier Universitaire Mohamed Nedir, Institut de la Vision, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génétique et Physiologie de l'Audition, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), We are grateful to the family members for their participation in this study. The study was supported by National Veterinary School and the Algerian Ministry of Higher Education and Scientific research., Université des Sciences et de la Technologie Houari Boumediene [Alger] (USTHB), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), and Chaire Génétique et physiologie cellulaire
- Subjects
Male ,MESH: Acidosis, Renal Tubular ,MESH: Introns ,[SDV]Life Sciences [q-bio] ,Gene mutation ,Gastroenterology ,Renal tubular acidosis ,Sensorineural hearing loss (SNHL) ,0302 clinical medicine ,Distal renal tubular acidosis ,030223 otorhinolaryngology ,Frameshift Mutation ,education.field_of_study ,Enlarged vestibular aqueduct (EVA) ,MESH: Vestibular Aqueduct ,Homozygote ,MESH: Frameshift Mutation ,General Medicine ,Acidosis, Renal Tubular ,Exons ,MESH: Infant ,3. Good health ,Child, Preschool ,Sensorineural hearing loss ,Female ,MESH: Algeria ,MESH: Homozygote ,medicine.medical_specialty ,Vacuolar Proton-Translocating ATPases ,Distal renal tubular acidosis (dRTA) ,Hearing Loss, Sensorineural ,Population ,MESH: Vacuolar Proton-Translocating ATPases ,Frameshift mutation ,Vestibular Aqueduct ,03 medical and health sciences ,030225 pediatrics ,Internal medicine ,medicine ,otorhinolaryngologic diseases ,Humans ,education ,ATP6V1B1 ,MESH: Humans ,business.industry ,MESH: Child, Preschool ,Infant ,Metabolic acidosis ,medicine.disease ,Introns ,MESH: Male ,Otorhinolaryngology ,MESH: Hearing Loss, Sensorineural ,Algeria ,Pediatrics, Perinatology and Child Health ,business ,MESH: Exons ,MESH: Female ,Enlarged vestibular aqueduct - Abstract
International audience; Hereditary distal renal tubular acidosis (dRTA) is a rare disorder characterized by metabolic acidosis due to impaired renal acid excretion. To date, three genes (ATP6V1B1, ATP6V0A4 and SLC4A1) have been reported to be responsible for this genetic disorder. Notably, mutations of ATP6V1B1 gene, which encode B1-subunit of H + -ATPase pump cause distal renal tubular acidosis often, associated with sensorineural hearing loss (SNHL). Furthermore, enlarged vestibular aqueduct (EVA) was also described in some patients with ATP6V1B1 mutations. Four Algerian unrelated patients presented with dRTA and SNHL were recruited. The ATP6V1B1 gene was preferentially analyzed in all these patients by Sanger sequencing. We identified two previously reported variants in ATP6V1B1 gene: a frameshift mutation (c.1155dupC: p.(Ile386Hisfs*56) in exon 12 and a splicing mutation in intron 2 (c.175-1G > C: p?). Both mutations were homozygous in affected members. Interestingly, one patient with p.(Ile386Hisfs*56) mutation presented profound SNHL and bilateral enlarged vestibular aqueduct (EVA). Our study indicates the importance contribution of ATP6V1B1 gene mutations to the pathogenesis of the dRTA in the Algerian population and will contribute to introducing principles to predict the characteristics of the dRTA in patients. Thus, screening for this gene could allow rapid patient management and provide adequate genetic counseling.
- Published
- 2020
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