亲爱的研友该休息了!由于当前在线用户较少,发布求助请尽量完整的填写文献信息,科研通机器人24小时在线,伴您度过漫漫科研夜!身体可是革命的本钱,早点休息,好梦!

Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation

医学 结果(博弈论) 听力学 感音神经性聋 听力损失 儿科 数学 数理经济学
作者
Johanna Elander,Tove Ullmark,Hans Ehrencrona,Tord Jonson,Paul Piccinelli,Sofie Samuelsson,Karolina Löwgren,Karolina Falkenius-Schmidt,Johannes K. Ehinger,Karin Stenfeldt,Maria Värendh
出处
期刊:International Journal of Pediatric Otorhinolaryngology [Elsevier]
卷期号:159: 111218-111218 被引量:7
标识
DOI:10.1016/j.ijporl.2022.111218
摘要

The aim of this study was to investigate genetic outcomes, analyze the family experience, and describe the process of implementing genetic sequencing for children with profound sensorineural hearing loss (SNHL) at a tertial audiological center in southern Sweden.This is a prospective pilot study including eleven children with profound bilateral SNHL who underwent cochlear implant surgery. Genetic diagnostic investigation was performed with whole exome sequencing (WES) complemented with XON-array to identify copy number variants, using a manually curated gene panel incorporating 179 genes associated with non-syndromic and syndromic SNHL. Mitochondrial DNA (mtDNA) from blood was examined separately. A patient reported experience measures (PREM) questionnaire was used to evaluate parental experience. We also describe here the process of implementing WES in an audiology department.Six female and five male children (mean 3.4 years, SD 3.5 years), with profound bilateral SNHL were included. Genetic variants of interest were found in six subjects (55%), where three (27%) could be classified as pathogenic or likely pathogenic. Among the six cases, one child was found to have a homozygous pathogenic variant in MYO7A and two children had homozygous likely pathogenic variants in SLC26A4 and PCDH15, respectively. One was carrying a compound heterozygote frameshift variant of uncertain significance (VUS) on one allele and in trans, a likely pathogenic deletion on the other allele in PCDH15. Two subjects had homozygous VUS in PCDH15 and ADGRV1, respectively. In five of the cases the variants were in genes associated with Usher syndrome. For one of the likely pathogenic variants, the finding was related to Pendred syndrome. No mtDNA variants related to SNHL were found. The PREM questionnaire revealed that the families had difficulty in fully understanding the results of the genetic analysis. However, the parents of all eleven (100%) subjects still recommended that other families with children with SNHL should undergo genetic testing. Specifically addressed referrals for prompt complementary clinical examination and more individualized care were possible, based on the genetic results. Close clinical collaboration between different specialists, including physicians of audiology, audiologists, clinical geneticists, ophthalmologists, pediatricians, otoneurologists, physiotherapists and hearing habilitation teams was initiated during the implementation of the new regime. For all professionals involved, a better knowledge of the diversity of the genetic background of hearing loss was achieved.Whole exome sequencing and XON-array using a panel of genes associated with SNHL had a high diagnostic yield, added value to the families, and provided guidance for further examinations and habilitation for the child. Great care should be taken to thoroughly inform parents about the genetic test result. Collaborations between departments were intensified and knowledge of hearing genomics was increased among the staff.
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
大幅提高文件上传限制,最高150M (2024-4-1)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
4秒前
阿尼亚发布了新的文献求助10
10秒前
哈哈哈哈完成签到 ,获得积分10
11秒前
Nefelibata完成签到,获得积分10
13秒前
Limerencia完成签到,获得积分10
27秒前
完美世界应助阿文采纳,获得10
30秒前
48秒前
清秀紫南完成签到 ,获得积分10
49秒前
蔗蔗月月发布了新的文献求助10
53秒前
科研通AI2S应助钰姝采纳,获得10
54秒前
陈静完成签到,获得积分10
1分钟前
隐形夏旋完成签到,获得积分10
1分钟前
qiuhx1053完成签到 ,获得积分10
1分钟前
1分钟前
1分钟前
1分钟前
快乐的C发布了新的文献求助10
1分钟前
圆圆圆完成签到 ,获得积分10
1分钟前
++完成签到 ,获得积分10
1分钟前
刘小花完成签到 ,获得积分10
1分钟前
gebiheishuini完成签到 ,获得积分10
1分钟前
1分钟前
小叶不吃香菜完成签到,获得积分20
1分钟前
1分钟前
1分钟前
2分钟前
lili完成签到 ,获得积分20
2分钟前
李大姐发布了新的文献求助10
2分钟前
2分钟前
2分钟前
科研通AI2S应助科研通管家采纳,获得10
2分钟前
我是老大应助机灵的醉山采纳,获得10
2分钟前
王亚茹完成签到 ,获得积分10
3分钟前
3分钟前
picapica668发布了新的文献求助10
3分钟前
天天快乐应助阿文采纳,获得10
3分钟前
上官若男应助小骆采纳,获得10
3分钟前
李大姐完成签到,获得积分20
3分钟前
Chris完成签到 ,获得积分0
3分钟前
3分钟前
高分求助中
The Oxford Handbook of Social Cognition (Second Edition, 2024) 1050
Kinetics of the Esterification Between 2-[(4-hydroxybutoxy)carbonyl] Benzoic Acid with 1,4-Butanediol: Tetrabutyl Orthotitanate as Catalyst 1000
The Young builders of New china : the visit of the delegation of the WFDY to the Chinese People's Republic 1000
Rechtsphilosophie 1000
Handbook of Qualitative Cross-Cultural Research Methods 600
Chen Hansheng: China’s Last Romantic Revolutionary 500
Mantiden: Faszinierende Lauerjäger Faszinierende Lauerjäger 500
热门求助领域 (近24小时)
化学 医学 生物 材料科学 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 基因 遗传学 催化作用 物理化学 免疫学 量子力学 细胞生物学
热门帖子
关注 科研通微信公众号,转发送积分 3139515
求助须知:如何正确求助?哪些是违规求助? 2790418
关于积分的说明 7795156
捐赠科研通 2446832
什么是DOI,文献DOI怎么找? 1301450
科研通“疑难数据库(出版商)”最低求助积分说明 626238
版权声明 601146