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

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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

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  • 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.
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