Hearing assessment and follow-up study of aeonatal deafness gene screening homozygous mutation infants
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摘要: 目的:分析珠海市部分耳聋基因筛查纯合突变婴幼儿的听力评估特点和随访情况。方法:回顾性分析耳聋基因筛查纯合突变转至珠海市妇幼保健院的28例新生儿的临床资料,所有患儿均进行听力筛查,听力学诊断和1~3年的行为测听随访,分析不同基因位点纯合突变患儿的听力特点及长期随访结果。结果:14例GJB2 c.109G>A纯合突变患儿中,11例新生儿听力筛查通过,听力学诊断正常,1~3年行为测听随访正常;3例新生儿听力筛查未通过,听力学诊断单或双耳轻中度异常,1 000 Hz无峰,确诊为中耳病变,治愈后1~3年行为测听随访正常。8例GJB2 c.235del C纯合突变患儿,均未通过新生儿听力筛查,其中5例听力学诊断为双耳听力重度极重度损伤,3例为双耳轻中度听力损失,随访1~3年行为测听随访均未通过。1例GJB3 547G>A纯合突变患儿,新生儿听力筛查通过,听力学诊断正常,随访1~3年行为测听随访通过。4例SLC26A4 IVS7-2A>G、1例SLC26A4 1229C>T纯合突变患儿,均未通过新生儿听力筛查,听力学诊断均为双耳听力重度损伤,随访1~3年行为测听随访均未通过。结论:本次随访发现GJB2 C.235del C、SLC26A4 IVS7-2A>G位点纯合突变婴幼儿出生后听力障碍较重,1~3年随访无改变,建议尽早干预及遗传咨询。GJB2 C.109G A纯合突变婴幼儿听力正常,建议密切随访。对GJB2 C.109G A纯合突变婴幼儿家长给予正确、合理的遗传咨询非常重要,避免引起不必要恐慌。Abstract: Objective: To analyze the hearing assessment characteristics and follow-up of some deafness gene screening homozygous infants in Zhuhai. Method: The clinical data of 28 newborns with homozygous mutations transferred to Zhuhai Maternal and Child Health Hospital from Feb. 1, 2015 to Oct. 25, 2018 in hospitals of Zhuhai City were retrospectively analyzed. All the children were screened for hearing. The hearing characteristics and long-term follow-up results of homozygous mutations at different gene sites were analyzed by auditory diagnosis and behavioral follow-up from 1 to 3 years. Result: Fourteen cases of GJB2 c.109 G>A with a homozygous mutation, 11 cases passed the hearing screening, the audiological diagnosis was normal, and the behavior test and follow-up were normal from 1 to 3 years. Hearing screening was not passed in 3 newborns, mild to moderate abnormalities of single or bilateral ears were diagnosed by audiology, 1 000 Hz without positive, and middle ear lesions were diagnosed. Eight cases of GJB2 c.235 del C homozygous mutation were followed up by behavioral audiometry and follow-up from 1 to 3 years after cure. Among them, 5 cases were diagnosed as severe hearing impairment of bilateral ears and 3 cases as mild and moderate hearing impairment. One case of GJB3 547 G>A homozygous mutation was followed up for 1-3 years, and all of them failed to pass the follow-up of behavioral audiometry and follow-up. Four cases of SLC26 A4 IVS7-2 A>G, 1 case of SLC26 A4 1229 C>T homozygous mutation, all of them failed to pass the neonatal hearing screening. All the patients were diagnosed as severe hearing impairment of binaural hearing, and the follow-up of 1-3 years' follow-up did not pass the follow-up tests.Conclusion: GJB2 C.235 del C, SLC26 A4 IVS7-2 A>G locus homozygous mutation infant hearing impairment was mainly severe hearing impairment in bilateral ears, and there was no change in 1-3 years follow-up. GJB2 C.109 G A homozygous mutant infants had normal hearing, and it was suggested that they should be followed up closely. It is very important to give correct and reasonable genetic counseling to parents with GJB2 C.109 G A homozygous mutation without unnecessary panic.
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