Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients

Almontashiri NA, Alswaid A, Oza A, Almazrou KA, Elrehim O, AbouTayoun A, Rehm HL, Amr SS (2018) Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients. Genetics Med 20:536–544

Article  CAS  Google Scholar 

Azadegan-Dehkordi F, Ahmadi R, Koohiyan M, Hashemzadeh-Chaleshtori M (2019) Update of spectrum c. 35delG and c.-23+ 1G> A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss. Ann Hum Genet 83:1–10

Article  PubMed  CAS  Google Scholar 

Budde BS, Aly MA, Mohamed MR, Bress A, Altmuller J, Motameny S, Kawalia A, Thiele H, Konrad K, Becker C, Toliat MR, Nurnberg G, Sayed EAF, Mohamed ES, Pfister M, Nurnberg P (2020) Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. Clin Genet 98:32–42

Article  PubMed  CAS  Google Scholar 

Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A (1997) Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. Hum Mol Genet 6:2163–2172

Delmaghani S, El-Amraoui A (2020) Inner ear gene therapies take off: current promises and future challenges. J Clin Med 9(7):2309

Article  PubMed  PubMed Central  CAS  Google Scholar 

Duman D, Sirmaci A, Cengiz FB, Ozdag H, Tekin M (2011) Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. Genet Test Mol Biomarkers 15:29–33

Article  PubMed  CAS  Google Scholar 

Edition F (2013) Diagnostic and statistical manual of mental disorders. Am Psychiatric Assoc 21:591–643

Google Scholar 

el Barbary NE, el Belbesy MF, Asal SI, Kholeif SF (2015) Detection of 35delG, 167delT mutations in the connexin 26 gene among Egyptian patients with nonsyndromic sensorineural hearing loss. Egypt J Otolaryngol 31:42–46

Article  Google Scholar 

Elbagoury NM, Soliman HN, Mohammed OS, Ghorab EA, Elruby MO, El-Bassyouni HT, Essawi ML (2014) Mutation analysis of the GJB2 and GJB6 genes in Egyptian patients with autosomal recessive sensorineural nonsyndromic hearing loss. Middle East J Med Genetics 3:11–15

Article  CAS  Google Scholar 

Elbagoury NM, Ashaat EA, Sharaf-Eldin WE, Hassib N, Ashaat NA, Youssef R, el Ruby MO, Esswai ML (2022) Expanding the phenotypic spectrum in ESRRB related sensorineural hearing loss: evidence provided via detecting novel nonsense mutation in an Egyptian family. Human Gene 34:201105

Article  CAS  Google Scholar 

Elgindy HA, Mohamed MF, Kotb M, EzzEldin Z, Hamdy H, Elmaghraby M, Elnaggar W (2022) Neonatal auditory screening is a necessity in the neonatal intensive care unit: single center study. Pediatr Sci J 2:120–126

Google Scholar 

Fassad MR, Desouky LM, Asal S, Abdalla EM (2014) Screening for the mitochondrial A1555G mutation among Egyptian patients with non-syndromic, sensorineural hearing loss. Int J Mol Epidemiol Genet 5:200–204

PubMed  PubMed Central  CAS  Google Scholar 

Friedman TB, Griffith AJ (2003) Human nonsyndromic sensorineural deafness. Annu Rev Genomics Hum Genet 4:341–402

Article  PubMed  CAS  Google Scholar 

Fugazzola L, Cerutti N, Mannavola D, Crino A, Cassio A, Gasparoni P, Vannucchi G, Beck-Peccoz P (2002) Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. Pediatr Res 51:479–484

Haile LM, Orji AU, Reavis KM, Briant PS, Lucas KM, Alahdab F, Barnighausen TW, Bell AW, Cao C, Dai X, Hay SI, Heidari G, Karaye IM, Miller TR, Mokdad AH, Mostafavi E, Natto ZS, Pawar S, Rana J, Seylani A, Singh JA, Wei J, Yang L, Ong KL, Steinmetz JD, Collaborators GUHL (2024) Hearing loss prevalence, years lived with disability, and hearing aid use in the United States from 1990 to 2019: findings from the Global Burden of Disease study. Ear Hear 45:257–267

Article  PubMed  Google Scholar 

Isherwood B, Gonçalves AC, Cousins R, Holme R (2021) The global hearing therapeutic pipeline: 2021. Drug Discov Today 27(3):912–922

Article  PubMed  Google Scholar 

Iwasa Y-I, Nishio S-Y, Yoshimura H, Kanda Y, Kumakawa K, Abe S, Naito Y, Nagai K, Usami S-I (2013) OTOF mutation screening in Japanese severe to profound recessive hearing loss patients. BMC Med Genet 14:1–7

Article  Google Scholar 

Khabori M, Mohammed A, Khandekar R, Prakesh N (1996) National survey for causes of deafness and common ear disorders in Oman. Oman Ear Study (OES’96) survey report. Sultanate of Oman Ministry of Health. World Health Organization

Liberman MC (2017) Noise-induced and age-related hearing loss: new perspectives and potential therapies. F100Res 6:927

Article  Google Scholar 

Meguid NA, Omran MH, Dardir AA, Abdel-Raouf ER, Ghorab IA, Abdel-Raouf HR, Elgarf WT (2008) Study of 35delG in congenital sensorineural non-syndromic hearing loss in Egypt. J Appl Sci Res 4:621–626

CAS  Google Scholar 

Miyamura N, Matsumoto K, Taguchi T, Tokunaga H, Nishikawa T, Nishida K, Toyonaga T, Sakakida M, Araki E (2003) Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. J Clin Endocrinol Metab 88:781–786

Article  PubMed  CAS  Google Scholar 

Morgan M, Schott JW, Rossi A, Landgraf C, Warnecke A, Staecker H, Lesinski-Schiedat A, Schlegelberger B, Büning H, Auber B, Schambach A (2020) Gene therapy as a possible option to treat hereditary hearing loss. Medizinische Genetik 32:149–159

Naz S, Giguere CM, Kohrman DC, Mitchem KL, Riazuddin S, Morell RJ, Ramesh A, Srisailpathy S, Deshmukh D, Riazuddin S, Griffith AJ, Friedman TB, Smith RJ, Wilcox ER (2002) Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus. Am J Hum Genet 71:632–636

Raviv D, Dror AA, Avraham KB (2010) Hearing loss: a common disorder caused by many rare alleles. Ann N Y Acad Sci 1214:168–179

Article  PubMed  PubMed Central  CAS  Google Scholar 

Rodriguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Meda C, Curet C, Volter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedin S, Smith J, Cruz Tapia M, Cavalle L, Gelvez N, Primignani P, Gomez-Rosas E, Martin M, Moreno-Pelayo MA, Tamayo M, Moreno-Barral J, Moreno F, Del Castillo I (2008) A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. Hum Mutat 29:823–831

Roid GH, Pomplun M (2012) The Stanford-Binet Intelligence Scales. The Guilford Press, New York, NY, USA

Google Scholar 

Salime S, Charif M, Bousfiha A, Elrharchi S, Bakhchane A, Charoute H, Kabine M, Snoussi K, Lenaers G, Barakat A (2017) Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families. Int J Pediatr Otorhinolaryngol 101:25–29

Sidenna M, Fadl T, Zayed H (2020) Genetic epidemiology of hearing loss in the 22 Arab countries: a systematic review. Otol Neurotol 41(2):e152–e162

Article  PubMed  Google Scholar 

Sloan-Heggen CM, Babanejad M, Beheshtian M, Simpson AC, Booth KT, Ardalani F, Frees KL, Mohseni M, Mozafari R, Mehrjoo Z, Jamali L, Vaziri S, Akhtarkhavari T, Bazazzadegan N, Nikzat N, Arzhangi S, Sabbagh F, Otukesh H, Seifati SM, Khodaei H, Taghdiri M, Meyer NC, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Azaiez H, Najmabadi H (2015) Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. J Med Genet 52:823–829

Snoeckx RL, Hassan DM, Kamal NM, van den Bogaert K, van Camp G (2005) Mutation analysis of the GJB2 (connexin 26) gene in Egypt. Hum Mutat 26:60–61

Article  PubMed  Google Scholar 

Temtamy S, Aglan M (2012) Consanguinity and genetic disorders in Egypt. Middle East J Med Genetics 1:12–17

Article  Google Scholar 

Vona B, Nanda I, Hofrichter MA, Shehata-Dieler W, Haaf T (2015) Non-syndromic hearing loss gene identification: a brief history and glimpse into the future. Mol Cell Probes 29:260–270

Article  PubMed  CAS  Google Scholar 

Willems PJ (2000) Genetic causes of hearing loss. New England J Med 342:1101–1109

Article  CAS  Google Scholar 

Zakzouk SM, Al-Anazy F (2002) Sensorineural hearing impaired children with unknown causes: a comprehensive etiological study. Int J Pediatr Otorhinolaryngol 64:17–21

Article  PubMed  Google Scholar 

Comments (0)

No login
gif