Hearing outcomes after cochlear implantation in two patients with ATP6V1B2-related deafness and onychodystrophy

IF 2.2 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics Pub Date : 2026-07-01 Epub Date: 2026-06-26 DOI:10.1016/j.ejmg.2026.105090

Sarah Chamieh, Pauline Marzin, Sophie Achard, Pierre Blanc, Laurence Jonard, Saba Battelino, Katarina Trebusak, Margaux Serey-Gaut, Sandrine Marlin

引用次数: 0

Abstract

The gold standard recommendation for congenital sensorineural hearing loss (SNHL) care is cochlear implantation (CI). Adjusting for confounding factors such as developmental comorbidities is crucial when assessing expected outcomes of the procedure for the patients, their families, and their medical teams. We describe two clinical cases of the deafness and onychodystrophy (DOD) spectrum and the benefit of molecular diagnosis to underline the importance of genetic testing when evaluating potential CI outcomes in syndromic congenital SNHL.

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2例atp6v1b2相关性耳聋及耳甲营养不良患者人工耳蜗植入术后的听力结果

先天性感音神经性听力损失（SNHL）护理的金标准推荐是人工耳蜗植入（CI）。在评估手术对患者、家属和医疗团队的预期结果时，调整诸如发育合并症等混杂因素至关重要。我们描述了两个耳聋和甲营养不良（DOD）谱的临床病例和分子诊断的好处，以强调基因检测在评估综合征型先天性SNHL潜在CI结果时的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

European journal of medical genetics 医学-遗传学

CiteScore

4.10

自引率

0.00%

发文量

193

审稿时长

66 days

期刊介绍： The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.