Childhood Hearing Impairment in Senegal.

Autor:	Dia Y; Division of Human Genetics, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar 10700, Senegal., Loum B; Department of Oto-Rhino-Laryngology, Albert Royer Children's Hospital, Dakar 10700, Senegal., Dieng YJKB; Department of Neonatology, Albert Royer Children's Hospital, Dakar 10700, Senegal., Diop JPD; Division of Human Genetics, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar 10700, Senegal., Adadey SM; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.; West African Centre for Cell Biology of Infectious Pathogens (WACCBIP), University of Ghana, Legon, Accra P.O. Box LG 54, Ghana., Aboagye ET; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.; West African Centre for Cell Biology of Infectious Pathogens (WACCBIP), University of Ghana, Legon, Accra P.O. Box LG 54, Ghana., Ba SA; Division of Human Genetics, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar 10700, Senegal., Touré AA; Department of Oto-Rhino-Laryngology, Albert Royer Children's Hospital, Dakar 10700, Senegal., Niang F; Department of Oto-Rhino-Laryngology, Albert Royer Children's Hospital, Dakar 10700, Senegal., Diaga Sarr P; Division of Human Genetics, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar 10700, Senegal., Tidiane Ly CA; Division of Human Genetics, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar 10700, Senegal., Sène ARG; Division of Human Genetics, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar 10700, Senegal., Kock C; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa., Bassier R; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa., Popel K; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa., Ndiaye Diallo R; Division of Human Genetics, Faculty of Medicine, Pharmacy and Odontology, University Cheikh Anta Diop (UCAD), Dakar 10700, Senegal., Wonkam A; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.; McKusick-Nathans Institute and Department of Genetic Medicine, Johns-Hopkins University School of Medicine, Baltimore, MD 21205, USA., Diallo BK; Department of Oto-Rhino-Laryngology, Albert Royer Children's Hospital, Dakar 10700, Senegal.
Jazyk:	angličtina
Zdroj:	Genes [Genes (Basel)] 2023 Feb 23; Vol. 14 (3). Date of Electronic Publication: 2023 Feb 23.
DOI:	10.3390/genes14030562
Abstrakt:	We recently showed that variants in GJB2 explained Hearing Impairment (HI) in 34.1% ( n = 15/44) of multiplex families in Senegal. The present study aimed to use community-based nationwide recruitment to determine the etiologies and the clinical profiles of childhood HI in Senegal. Participants with early onset HI were included after clinical examination, including audiological assessment by pure tone audiometry and/or auditory brainstem response. We investigated a total of 406 participants from 295 families, recruited from 13/14 administrative regions of Senegal. Male/female ratio was 1.33 (232/174). Prelingual HI was the most common type of HI and accounted for 80% ( n = 325 individuals). The mean age at medical diagnosis for congenital HI was computed at 3.59 ± 2.27 years. Audiological evaluation showed sensorineural HI as the most frequently observed HI (89.16%; n = 362 individuals). Pedigree analysis suggested autosomal recessive inheritance in 61.2% (63/103) of multiplex families and sporadic cases in 27 families (26.2%; 27/103), with a consanguinity rate estimated at 93% (84/90 families). Genetic factors were likely involved in 52.7% (214/406) of the cases, followed by environmental causes (29.57%; 120/406). In 72 cases (17.73%), the etiology was unknown. Clinically, non-syndromic HI was the most common type of HI (90.6%; n = 194/214 individuals). Among families segregating syndromic cases, type 2 Waardenburg syndrome was the most common (36.3%; 4/11 families). This study revealed putative genetic factors, mostly associated with high consanguinity rate, as the leading causes of early-onset HI in Senegal. The high consanguinity could provide a good opportunity to identify variants in known and novel genes involved in childhood HI. Competing Interests: The authors declare no conflict of interest.
Databáze:	MEDLINE
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