一个新的X连锁耳聋综合征的表型特征

doi:10.6040/j.issn.1673-3770.0.2020.382

摘要/Abstract

摘要： 目的探讨一个X连锁隐性综合征型耳聋家系的表型特征。方法对所有家系成员进行详细的病史询问、体格检查和纯音听力测试,另对其中4例患者进行进一步的颞骨高分辨率CT检查、发育和智力评估以及实验室检查等。结果家系共5代60例,6例患者均为男性,其遗传基因来自他们表型正常的母亲。接受进一步评估的4例患者均为出生后即有听力下降,纯音测听提示为双耳轻~重度混合性或传导性听力损失,其中3例听力损失随年龄进行性加重。耳科检查发现,4例6耳外耳道闭锁,2耳耳道重度狭窄;3例存在不同程度的耳郭畸形,包括招风耳、后旋小耳、对耳轮和对耳屏发育不全等。颞骨影像学检查提示3例混合性听力损失者具有相似的内耳发育畸形:内听道异常扩大;2例可疑听骨链异常。此外,4例均有不同程度的面部形态异常,包括双侧上睑下垂(3例)、眉毛浓密(3例)、眼距增宽(4例)、宽鼻根(3例)、小眼(1例)和面部不对称(1例)。4例患者的发育和智力评估、视力、眼底检查以及实验室检查等均未见异常。结论系谱分析及临床评估表明该家系表型为一种新的X连锁耳聋综合征,其主要临床特征为耳发育畸形、先天性混合性或传导性听力损失以及面部形态异常。

关键词: 家系, X连锁隐性遗传, 综合征型听力损失, 耳畸形, 面部形态异常

中图分类号:

R764

兰世鹏,陈智斌,曹新,邢光前. 一个新的X连锁耳聋综合征的表型特征[J]. 山东大学耳鼻喉眼学报, 2021, 35(3): 65-69.

LAN Shipeng, CHEN Zhibin, CAO Xin, XING Guangqian. Phenotypic characteristics of a new X-linked deafness syndrome[J]. Journal of Otolaryngology and Ophthalmology of Shandong University, 2021, 35(3): 65-69.

参考文献

[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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