Clinical phenotypes and cochlear implant outcomes in patients with PTPN11-associated noonan spectrum disorders: Insights from a genetically screened cohort.

doi:10.1007/s00405-026-10056-8

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Article

Clinical phenotypes and cochlear implant outcomes in patients with PTPN11-associated noonan spectrum disorders: Insights from a genetically screened cohort.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery - 1 May 2026

Chen Zhongyan, Bi Qingling, Kang Baoling, Liu Shufang, Zhai Yanan, Li Guanghan, Lv Yong, Liu Yang, Liu Jianfeng, Li Yan, Yang Wenjing, Xu Xiaoyu, Li Yuan

Abstract excerpt

OBJECTIVES: We characterized the clinical features of PTPN11-related deafness and evaluated the outcomes of cochlear implantation in affected patients. METHODS: Whole-exome sequencing and bioinformatic analyses were performed in a cohort of 467 individuals with congenital sensorineural hearing loss to identify potential genetic etiologies. Four patients harboring PTPN11 variants were reviewed for their clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41786942
DOI: 10.1007/s00405-026-10056-8
PMCID: PMC13152949

Genes

PTPN11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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