Kaitian Chen1, Xianren Wang, Liang Sun, Hongyan Jiang. 1. Department of Otorhinolaryngology, the First Affiliated Hospital, Sun Yat-Sen University and Institute of Otorhinolaryngology, Sun Yat-sen University, Guangzhou, PR China.
Abstract
OBJECTIVE: Bilateral nonsyndromic sensorineural hearing loss associated with inner ear malformation is closely related to genetics. SLC26A4 is considered to be the major involved gene. Recently, FOXI1 and KCNJ10 mutations have been linked to enlarged vestibular aqueducts and GJB2 mutations linked to temporal bone malformation. The authors aimed to investigate the mutation spectrums of these genes in Chinese patients with bilateral hearing impairment associated with inner ear malformation. STUDY DESIGN: Cross-sectional study. SETTING: Affiliated hospital of the university. SUBJECTS AND METHODS: The authors analyzed the GJB2, SLC26A4, FOXI1, and KCNJ10 gene sequences in 43 patients presenting with bilateral hearing impairment associated with inner ear malformation using pyrosequencing and direct DNA sequencing. RESULTS: In total, 74.4% (32/43) of patients carried at least 1 of 14 pathogenic SLC26A4 mutations, including 6 novel mutations and 4 polymorphisms. Patients with enlarged vestibular aqueducts had a higher rate of SLC26A4 mutation than Mondini dysplasia patients. No FOXI1 or KCNJ10 potential pathogenic mutation was present, and GJB2 biallelic pathogenic mutations were uncommon (2.3%; 1/43). No significant correlation was observed between the genotype and phenotype of SLC26A4 mutations. CONCLUSION: SLC26A4 accounts for 74.4% of inner ear malformations in our cohort, whereas FOXI1, KCNJ10, and GJB2 mutations are not common. Other possible genes or external factors may contribute to this multibranch abnormality.
OBJECTIVE: Bilateral nonsyndromic sensorineural hearing loss associated with inner ear malformation is closely related to genetics. SLC26A4 is considered to be the major involved gene. Recently, FOXI1 and KCNJ10 mutations have been linked to enlarged vestibular aqueducts and GJB2 mutations linked to temporal bone malformation. The authors aimed to investigate the mutation spectrums of these genes in Chinese patients with bilateral hearing impairment associated with inner ear malformation. STUDY DESIGN: Cross-sectional study. SETTING: Affiliated hospital of the university. SUBJECTS AND METHODS: The authors analyzed the GJB2, SLC26A4, FOXI1, and KCNJ10 gene sequences in 43 patients presenting with bilateral hearing impairment associated with inner ear malformation using pyrosequencing and direct DNA sequencing. RESULTS: In total, 74.4% (32/43) of patients carried at least 1 of 14 pathogenic SLC26A4 mutations, including 6 novel mutations and 4 polymorphisms. Patients with enlarged vestibular aqueducts had a higher rate of SLC26A4 mutation than Mondini dysplasiapatients. No FOXI1 or KCNJ10 potential pathogenic mutation was present, and GJB2 biallelic pathogenic mutations were uncommon (2.3%; 1/43). No significant correlation was observed between the genotype and phenotype of SLC26A4 mutations. CONCLUSION:SLC26A4 accounts for 74.4% of inner ear malformations in our cohort, whereas FOXI1, KCNJ10, and GJB2 mutations are not common. Other possible genes or external factors may contribute to this multibranch abnormality.
Authors: Julie A Muskett; Parna Chattaraj; John F Heneghan; Fabian R Reimold; Boris E Shmukler; Carmen C Brewer; Kelly A King; Christopher K Zalewski; Thomas H Shawker; John A Butman; Margaret A Kenna; Wade W Chien; Seth L Alper; Andrew J Griffith Journal: Laryngoscope Date: 2015-10-20 Impact factor: 3.325
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Authors: Elodie M Richard; Regie Lyn P Santos-Cortez; Rabia Faridi; Atteeq U Rehman; Kwanghyuk Lee; Mohsin Shahzad; Anushree Acharya; Asma A Khan; Ayesha Imtiaz; Imen Chakchouk; Christina Takla; Izoduwa Abbe; Maria Rafeeq; Khurram Liaqat; Taimur Chaudhry; Michael J Bamshad; Deborah A Nickerson; Isabelle Schrauwen; Shaheen N Khan; Robert J Morell; Saba Zafar; Muhammad Ansar; Zubair M Ahmed; Wasim Ahmad; Sheikh Riazuddin; Thomas B Friedman; Suzanne M Leal; Saima Riazuddin Journal: Hum Mutat Date: 2018-11-18 Impact factor: 4.878