Journal of Otolaryngology and Ophthalmology of Shandong University ›› 2021, Vol. 35 ›› Issue (3): 65-69.doi: 10.6040/j.issn.1673-3770.0.2020.382

Previous Articles     Next Articles

Phenotypic characteristics of a new X-linked deafness syndrome

LAN Shipeng1, CHEN Zhibin1, CAO Xin2, XING Guangqian1   

  1. 1. Department of Otorhinolaryngology, the First Affiliated Hospital of Nanjing Medical University/Jiangsu Provincial People's Hospital, Nanjing 210029, Jiangsu, China;
    2. Department of Medical Genetics, School of Basic Medical Science, Nanjing Medical University, Nanjing 211166, Jiangsu, China
  • Published:2021-05-14

PDF (PC)

103

CLC Number: 

  • R764
[1] Angeli S, Lin X, Liu XZ. Genetics of hearing and deafness[J]. Anatomical Record, 2012, 295(11): 1812-1829. doi:10.1002/ar.22579.
[2] Petersen MB, Wang Q, Willems PJ. Sex-linked deafness[J]. Clin Genet, 2008, 73(1): 14-23. doi: 10.1111/j.1399-0004.2007.00913.x.
[3] Meena R, Ayub M. Genetics of Human Hereditary Hearing Impairment[J]. J Ayub Med Coll Abbottabad, 2017,29(4):671-676.
[4] Xing GQ, Yao J, Liu CY, et al. GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss[J]. Journal of Medical Genetics, 2017, 54(6): 426-430. doi:10.1136/jmedgenet-2016-104320.
[5] Heidet L, Gubler MC. Alport syndrome: Hereditary nephropathy associated with mutations in genes coding for type IV collagen chains[J]. Nephrologie & Therapeutique, 2016, 12(7): 544-551. doi:10.1016/j.nephro.2016.09.001.
[6] Tranebjaerg L, Schwartz C, Eriksen H, et al. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22[J]. J Med Genet, 1995, 32(4): 257-263. doi:10.1136/jmg.32.4.257.
[7] Adibelli ZH, Isayeva L, Koc AM, et al. The new classification system for inner ear malformations: the INCAV system[J]. Acta Oto-Laryngologica, 2017, 137(3): 246-252. doi:10.1080/00016489.2016.1247498.
[8] Song MH, Lee KY, Chol JY, et al. Nonsyndromic X-linked hearing loss[J]. Frontiers in Bioscience- Elite, 2012, 4 E(3): 924-933.
[9] Huang BY, Zdanski C, Castillo M. Pediatric sensorineural hearing loss, part 2: syndromic and acquired causes[J]. AJNR American Journal of Neuroradiology, 2012, 33(3): 399-406. doi:10.3174/ajnr.a2499.
[10] Tyshchenko N, Neuhann TM, Gerlach E, et al. A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability[J]. American Journal of Medical Genetics Part A, 2011, 155(9): 2060-2065. doi:10.1002/ajmg.a.34159.
[11] Sousa SB, Ramos F, Garcia P, et al. Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters[J]. American Journal of Medical Genetics Part A, 2014, 164(1): 10-14. doi:10.1002/ajmg.a.36235.
[12] Martin DM, Probst FJ, Camper SA, et al. Characterisation and genetic mapping of a new X linked deafness syndrome[J]. Journal of Medical Genetics, 2000, 37(11): 836-841. doi:10.1136/jmg.37.11.836.
[13] De Brouwer APM, Williams KL, Duley JA, et al. Arts syndrome is caused by loss-of-function mutations in PRPS1[J]. The American Journal of Human Genetics, 2007, 81(3): 507-518. doi:10.1086/520706.
[14] Zito I, Downes SM, Patel RJ, et al. RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections[J]. Journal of Medical Genetics, 2003, 40(8): 609-615. doi:10.1136/jmg.40.8.609.
[15] Reish O, Gorlin RJ, Hordinsky M, et al. Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia(BRESEK/BRESHECK): new X-linked syndrome?[J]. American Journal of Medical Genetics, 1997, 68(4): 386-390. doi:10.1002/(sici)1096-8628(19970211)68.
[16] Cowchock FS, Duckett SW, Streletz LJ, et al. X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder[J]. American Journal of Medical Genetics, 1985, 20(2): 307-315. doi:10.1002/ajmg.1320200214.
[1] TIAN Jun, LIU Liangfa, BAI Jiaqi. Cervical vertebral osteomyelitis secondary to necrotizing otitis externa:a case report and review of literature [J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2022, 36(4): 1-5.
[2] YANG Kun, CHEN Lijuan, HE Xiaodan, LIU Zhiqi, SHA Suhua. Comparative study of ototoxicity between kanamycin and 2-hydroxypropyl-β-cyclodextrin [J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2022, 36(4): 6-11.
[3] XU Jia, LI Xin, CHEN Wenjing, GAO Juanjuan, LU Xingxing, YI Haijin. Short-term and long-term outcomes of endolymphatic sac decompression with instillation of local steroids for intractable Meniere's disease [J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2022, 36(4): 17-21.
[4] HAN Shuhui, FAN Xintai, WANG Na, WANG Zhe, HOU Lingxiao, XU Anting. A study on the relationship between mastoid pneumatization degree and endolymphatic sac development based on a propensity score matching analysis [J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2022, 36(4): 22-26.
[5] ZHANG Yanhong, LI Juanjuan, ZENG Xianhai, GOU Lingshan, WANG Zhaoxia, WEI Jianfang, MA Fang, QIU Shuqi. Clinical application of target gene panel testing in genetic diagnosis of deafness [J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2022, 36(4): 27-34.
[6] YANG Yang, WANG Xiaoxu, ZHANG Jie. Progress on diagnosis and treatment of middle ear cholesteatoma in children [J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2022, 36(1): 1-6.
[7] GAO Xinzhong, LING Zongtong, SHEN Ling, LIU Pingfang, LIN Xin, XU Yangyang. Analysis of the efficacy of balloon eustachian tuboplasty combined with adenoidectomy in the treatment of otitis media with effusion in children [J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2022, 36(1): 7-12.
[8] MA Ning, CHEN Min, LIU Wei, YANG Yang, SHAO Jianbo, HAO Jinsheng, LIU Bing, ZHANG Xiao, DUAN Xiaomin, ZHANG Qifeng, ZHANG Jie. Clinical characteristics and management of pediatric temporal bone fractures [J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2022, 36(1): 13-19.
[9] PAN Linlin, FANG Xuhua, ZHAI Feng, GUI Yiding, BIAN Zhouliang, CHEN Jie. The correlation between arterial blood gas analysis and hearing screening results in neonates [J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2022, 36(1): 20-24.
[10] MA Xiaobao, LI Yue, SHEN Jiali, SUN Jin, CHEN Xiangping, YANG Jun, CHEN Jianyong. A clinical observation on effect of auricle deformity type and age on outcomes of auricle correction in 1-year-old infants [J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2022, 36(1): 25-30.
[11] HU Chunyan, DANG Panhong, ZHANG Rui, FAN Mengyun. Analysis of audiological and imaging characteristics of 149 children with unilateral sensorineural hearing loss [J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2022, 36(1): 31-36.
[12] DANG Panhong, ZHANG Rui, HU Chunyan, WANG Jie, FAN Mengyun. Clinical analysis of facial nerve decompression via an external transmastoid-subtemporal labyrinth approach in eight children [J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2022, 36(1): 37-42.
[13] NI Kun, SUN Shibing, LI Xiaoyan. Application of 1 000 Hz acoustic immittance in hearing screenings of high-risk newborns [J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2022, 36(1): 43-47.
[14] PAN Linlin, KONG LingyiOverview, ZHAI Feng, CHEN JieGuidance. Research progress on auditory risk factors and hearing screening methods among neonates [J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2022, 36(1): 131-137.
[15] Vertigo is one of the most important symptom of peripheral vestibular diseases which are difficult to differentially diagnose and manage because multiple disciplines are involved. The premise of effective management is accurate diagnosis of vestibular diseases. With the development of vestibular function examination technology and the deepening of vestibular disease research, great progress has been made in the diagnosis and management of vestibular diseases. The establishment and publication of international classification of vestibular diseases, the introduction of diagnostic standards for various vestibular diseases in the world, the formulation of vestibular disease drugs, surgical specifications and the rapid development of vestibular rehabilitation technology make the diagnosis and management of vestibular diseases more and more standardized and accurate.. Diagnosis and management of peripheral vestibular diseases [J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2020, 34(5): 1-6.
Viewed
Full text


Abstract

Cited
  Shared   
  Discussed   
[1] LIN Bin,WANGHui-ge . Functional endoscopic sinus surgery, FESS[J]. JOURNAL OF SHANDONG UNIVERSITY (OTOLARYNGOLOGY AND OPHTHALMOLOGY), 2006, 20(6): 481 -487 .
[2] GONG Lei,SUN Jie,XUE Zi-chao,LI Jing-hua,XUE Wei-guo . DNA analysis of the cell cycle in sino-nasal neoplasm[J]. JOURNAL OF SHANDONG UNIVERSITY (OTOLARYNGOLOGY AND OPHTHALMOLOGY), 2008, 22(3): 193 -195 .
[3] CHEN Wen-wen . [J]. JOURNAL OF SHANDONG UNIVERSITY (OTOLARYNGOLOGY AND OPHTHALMOLOGY), 2006, 20(5): 472 -472 .
[4] LUAN Jiangang,LIANG Chuanyu,WEN Yanjun,LI Jiong . Construction of RNAi expressing plasmid vector of pSIRENshuttle for EGFR gene silencing[J]. JOURNAL OF SHANDONG UNIVERSITY (OTOLARYNGOLOGY AND OPHTHALMOLOGY), 2006, 20(1): 4 -8 .
[5] MA Jing, ZHONG Cui-ping . Surgical method for nasopharyngeal fibroangioma encroaching on fossa pterygopalatina: with a report of 5 cases[J]. JOURNAL OF SHANDONG UNIVERSITY (OTOLARYNGOLOGY AND OPHTHALMOLOGY), 2006, 20(1): 30 -32 .
[6] LIU Qiang-he,LUO Xiang-lin,GENG Wan-ping,CHEN Chen,LEI Xun,LIU Fang-xian,DENG Ming . Age-related spiral ganglion neuron damages and hearing loss in senescence accelerated mice[J]. JOURNAL OF SHANDONG UNIVERSITY (OTOLARYNGOLOGY AND OPHTHALMOLOGY), 2008, 22(3): 215 -217 .
[7] . [J]. JOURNAL OF SHANDONG UNIVERSITY (OTOLARYNGOLOGY AND OPHTHALMOLOGY), 2008, 22(3): 223 -226 .
[8] . [J]. JOURNAL OF SHANDONG UNIVERSITY (OTOLARYNGOLOGY AND OPHTHALMOLOGY), 2008, 22(3): 246 -247 .
[9] . [J]. JOURNAL OF SHANDONG UNIVERSITY (OTOLARYNGOLOGY AND OPHTHALMOLOGY), 2008, 22(3): 250 -252 .
[10] . [J]. JOURNAL OF SHANDONG UNIVERSITY (OTOLARYNGOLOGY AND OPHTHALMOLOGY), 2008, 22(3): 260 -262 .
Website Copyright: Editorial Office of Journal of Otolaryngology and Ophthalmology of Shandong University
Address: No.27 Shanda South Road, Jinan, Shandong, China. Post code: 250100 Tel: +86-0531-88366912 Email: ebhxb@sdu.edu.cn Supported by Beijing Magtech Co.Ltd