Ayako Kanno1,2,3, Hideki Mutai1, Kazunori Namba1, Noriko Morita4, Atsuko Nakano5, Noboru Ogahara6, Tomoko Sugiuchi7, Kaoru Ogawa3, Tatsuo Matsunaga1,8. 1. Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. 2. Department of Otolaryngology, Inagi Municipal Hospital, Tokyo, Japan. 3. Department of Otolaryngology, Keio University School of Medicine, Tokyo, Japan. 4. Department of Otolaryngology, Kobari General Hospital, Chiba, Japan. 5. Division of Otolaryngology, Chiba Children's Hospital, Chiba, Japan. 6. Department of Otorhinolaryngology, Kanagawa Children's Medical Center, Kanagawa, Japan. 7. Department of Otolaryngology, Kanto Rosai Hospital, Kanagawa, Japan. 8. Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Abstract
OBJECTIVES/HYPOTHESIS: To determine the frequency of the incomplete partition type III anomaly and the genetic and clinical features associated with POU3F4 mutations in children with hearing loss. STUDY DESIGN: Retrospective case series from 2000 to 2014 at the National Hospital Organization Tokyo Medical Center and collaborating hospitals. METHODS: A total of 1,004 patients (from 938 families) who had hearing loss by 10 years of age and had undergone computed tomography scanning of their temporal bones were enrolled in this genetic, clinical, and radiological study. RESULTS: The incomplete partition type III anomaly was identified in six patients (0.6%), each of whom had an enlargement of the vestibular aqueduct at the end close to the vestibule. The six patients also had POU3F4 variants, and a genetic analysis revealed frameshift deletions in three patients, a missense variant in two patients of the same family, and a large deletion in one patient. Three of the six patients with POU3F4 variants were sporadic cases, and in one patient the genetic mutation occurred de novo. CONCLUSIONS: It was indicated that POU3F4 mutations can be predicted by incomplete partition type III anomaly by radiological examination of the inner ear. All six of the patients showed mixed hearing loss, but none showed fluctuations in hearing, which may be related to the lack of vestibular aqueduct enlargement at the operculum. LEVEL OF EVIDENCE: 4 Laryngoscope, 127:1663-1669, 2017.
OBJECTIVES/HYPOTHESIS: To determine the frequency of the incomplete partition type III anomaly and the genetic and clinical features associated with POU3F4 mutations in children with hearing loss. STUDY DESIGN: Retrospective case series from 2000 to 2014 at the National Hospital Organization Tokyo Medical Center and collaborating hospitals. METHODS: A total of 1,004 patients (from 938 families) who had hearing loss by 10 years of age and had undergone computed tomography scanning of their temporal bones were enrolled in this genetic, clinical, and radiological study. RESULTS: The incomplete partition type III anomaly was identified in six patients (0.6%), each of whom had an enlargement of the vestibular aqueduct at the end close to the vestibule. The six patients also had POU3F4 variants, and a genetic analysis revealed frameshift deletions in three patients, a missense variant in two patients of the same family, and a large deletion in one patient. Three of the six patients with POU3F4 variants were sporadic cases, and in one patient the genetic mutation occurred de novo. CONCLUSIONS: It was indicated that POU3F4 mutations can be predicted by incomplete partition type III anomaly by radiological examination of the inner ear. All six of the patients showed mixed hearing loss, but none showed fluctuations in hearing, which may be related to the lack of vestibular aqueduct enlargement at the operculum. LEVEL OF EVIDENCE: 4 Laryngoscope, 127:1663-1669, 2017.
Authors: Ahmet M Tekin; Marco Matulic; Wim Wuyts; Masoud Zoka Assadi; Griet Mertens; Vincent van Rompaey; Yongxin Li; Paul van de Heyning; Vedat Topsakal Journal: Genes (Basel) Date: 2021-04-21 Impact factor: 4.096