The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions

Autor: Crystel Bonnet, Sonia Talbi, Christine Petit, Mohammed Tahar Mansouri, Farid Boudjenah, Fatima Ammar Khodja
Přispěvatelé: Université des Sciences et de la Technologie Houari Boumediene = University of Sciences and Technology Houari Boumediene [Alger] (USTHB), Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Hôpital Sidi Belloua, Hôpital de Frantz fanon, Centre hospitalo-universitaire de Bab El Oued, Institut Pasteur [Paris] (IP), Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), This work was supported by the Algerian Ministry of Higher Education and Scientific Research., We wish to thank the family members for their kind cooperation in this study. We are grateful to directors of deafness school, Arouini El Hachemie (Ghardaia school), Nezali Nadia and Aicha (Bejaia school), Akache Said (Tizi-Ouzou school), Mays Naima and Hadjemi Naima (Boumerdes school), Sabane Ali and Kacimi El Hassani Anissa (Bouira School), Dr Hadad (Baraki School), team of EHS Hospital of El Oued and Dr Lounis Abd Aziz (Service Ortorhyngologie (ORL), hôpital Frantz Fanon, Bejaia) for their help in sample collection., Université des Sciences et de la Technologie Houari Boumediene [Alger] (USTHB), Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Pasteur [Paris], Chaire Génétique et physiologie cellulaire
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Male
[SDV]Life Sciences [q-bio]
Deafness
Compound heterozygosity
medicine.disease_cause
Connexins
Cohort Studies
Gjb2 gene
Exon
MESH: Child
Prevalence
Child
MESH: Cohort Studies
Genetics
0303 health sciences
Mutation
MESH: Middle Aged
biology
Homozygote
030305 genetics & heredity
Exons
General Medicine
Middle Aged
MESH: Infant
3. Good health
GJB2
Connexin 26
MESH: Young Adult
Child
Preschool
c.35delG
Female
Isolated Deafness
medicine.symptom
MESH: Algeria
GJB6
MESH: Homozygote
Adult
MESH: Mutation
Adolescent
Hearing loss
Black People
MESH: Deafness
MESH: Connexin 30
Young Adult
03 medical and health sciences
Connexin 30
medicine
otorhinolaryngologic diseases
Humans
Prelingual deafness
MESH: Prevalence
030304 developmental biology
MESH: Adolescent
MESH: Humans
business.industry
MESH: Child
Preschool
Infant
MESH: Adult
MESH: Male
MESH: Connexins
Otorhinolaryngology
Algeria
Pediatrics
Perinatology and Child Health
biology.protein
MESH: African Continental Ancestry Group
business
MESH: Exons
MESH: Female
Zdroj: International Journal of Pediatric Otorhinolaryngology
International Journal of Pediatric Otorhinolaryngology, 2019, 124, pp.157-160. ⟨10.1016/j.ijporl.2019.05.036⟩
International Journal of Pediatric Otorhinolaryngology, Elsevier, 2019, 124, pp.157-160. ⟨10.1016/j.ijporl.2019.05.036⟩
ISSN: 0165-5876
1872-8464
DOI: 10.1016/j.ijporl.2019.05.036⟩
Popis: International audience; Introduction: DFNB1, caused by mutations of GJB2 or GJB6, is the most prevalent genetic form of nonsyndromic (i.e., isolated) congenital deafness in countries located around the Mediterranean Sea. Because some mutations are restricted to specific ethnic-geographic groups, we studied the prevalence and spectrum of GJB2/GJB6 mutations in deaf patients originating from two different Algerian regions, Kabylie and Sahara.Patients and methods: Among 91 reportedly unrelated Algerian patients affected by prelingual deafness, 80 patients (41 from Kabylie and 39 from Sahara) were diagnosed with isolated deafness. All had profound deafness, except one patient with mild deafness. They were screened for the presence of GJB2 mutations by direct sequencing of the single coding exon of GJB2. Patients without mutations were then screened for the presence of the most frequent two deletions of GJB6: del(GJB6-D13S1854) and del(GJB6-D13S1830).Results: Causative mutations were found in 13 and 8 patients from Kabylie and Sahara, respectively, accounting for more than a quarter of the cohort. The c.35delG, p.Gly12Valfs*2 mutation remains the most important mutation both in Kabylie (10 patients) and Sahara (7 patients). All detected patients were homozygous for this mutation. In addition, two other mutations (c.139G > T, p.Glu47* and c.167delT, p.Leu56Argfs*26) were found homozygous in one family each, and two patients were compound heterozygotes for (c.35delG p.Gly12Valfs*2/c.139G > T, p.Glu47*). No deletion of GJB6 was detected.Conclusion: We confirm that mutations in GJB2, mainly c.35delG, are one of the most prevalent causes of nonsyndromic congenital deafness in Algeria, whereas the del (GJB6-D13S1854) and del (GJB6-D13S1830) deletions of GJB6 contribute little, if any. Further investigation is needed to identify the cause of deafness in other patients without diagnostic.
Databáze: OpenAIRE
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