Evidence map›Paper›PMID 41786942›Full record

ArticleEuropean 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 Surgery2026

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

Zhongyan Chen, Qingling Bi, Baoling Kang, Shufang Liu, Yanan Zhai, Guanghan Li, Yong Lv, Yang Liu, Jianfeng Liu, Yan Li and 3 more

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Article in 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, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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13 authors.

Zhongyan ChenDepartment of Otolaryngology-Head & Neck Surgery, China Japan Friendship Hospital, No.2 Yinghuadong Street, Chaoyang District, Beijing, 100029, China.
Qingling BiDepartment of Otolaryngology-Head & Neck Surgery, China Japan Friendship Hospital, No.2 Yinghuadong Street, Chaoyang District, Beijing, 100029, China.
Baoling KangBeijing Angel Gene Medical Technology Co., Ltd., Beijing, China.
Shufang LiuDepartment of Pediatrics, China Japan Friendship Hospital, Beijing, China.
Yanan ZhaiDepartment of Cardiology, China Japan Friendship Hospital, Beijing, China.
Guanghan LiDepartment of Ultrasonography, China Japan Friendship Hospital, Beijing, China.
Yong LvDepartment of Otolaryngology-Head & Neck Surgery, China Japan Friendship Hospital, No.2 Yinghuadong Street, Chaoyang District, Beijing, 100029, China.
Yang LiuDepartment of Otolaryngology-Head & Neck Surgery, China Japan Friendship Hospital, No.2 Yinghuadong Street, Chaoyang District, Beijing, 100029, China.
Jianfeng LiuDepartment of Otolaryngology-Head & Neck Surgery, China Japan Friendship Hospital, No.2 Yinghuadong Street, Chaoyang District, Beijing, 100029, China.
Yan LiDepartment of Otolaryngology-Head & Neck Surgery, China Japan Friendship Hospital, No.2 Yinghuadong Street, Chaoyang District, Beijing, 100029, China.
Wenjing YangDepartment of Otolaryngology-Head & Neck Surgery, China Japan Friendship Hospital, No.2 Yinghuadong Street, Chaoyang District, Beijing, 100029, China.
Xiaoyu XuDepartment of Otolaryngology-Head & Neck Surgery, China Japan Friendship Hospital, No.2 Yinghuadong Street, Chaoyang District, Beijing, 100029, China.
Yuan LiDepartment of Otolaryngology-Head & Neck Surgery, China Japan Friendship Hospital, No.2 Yinghuadong Street, Chaoyang District, Beijing, 100029, China. yuanli0702@263.net.ORCID http://orcid.org/0000-0002-7619-7239

Funding

National High Level Hospital Clinical Research Funding 2023-NHLHCRF-PY-02
6 · The paper itself

Abstract

objectivesWe characterized the clinical features of PTPN11-related deafness and evaluated the outcomes of cochlear implantation in affected patients.

methodsWhole-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 characteristics and post-implantation auditory rehabilitation outcomes.

resultsPTPN11 variants were identified in four patients (Cases 1-4). A missense variant c.1391G > C (p.Gly464Ala) in exon 12 was detected in Case 1 and the recurrent variant c.836A > G (p.Tyr279Cys) in exon 7 was identified in Case 2. Both patients were diagnosed with Noonan syndrome with multiple lentigines. Missense variants c.1510A > G (p.Met504Val) in exon 13 and c.923A > G (p.Asn308Ser) in exon 8 were found in Cases 3 and 4, respectively; both were diagnosed with Noonan syndrome. Cases 1, 2, and 4 underwent cochlear implantation and demonstrated favorable postoperative auditory and speech outcomes.

conclusionOur study provides a comprehensive characterization of auditory, speech and systemic phenotypes in PTPN11-related Noonan spectrum disorders and demonstrates that cochlear implantation is highly effective for severe-to-profound hearing loss. These findings emphasize the value of early genetic diagnosis and emphasize the importance of coordinated, interdisciplinary management.

Indexed as

Cochlear ImplantationHearing Loss, SensorineuralNoonan SyndromeProtein Tyrosine Phosphatase, Non-Receptor Type 11ChildChild, PreschoolCochlear ImplantsExome SequencingFemaleGenetic TestingHumansMaleMutation, MissensePhenotypeTreatment OutcomeProtein Tyrosine Phosphatase, Non-Receptor Type 11PTPN11 protein, humanAuditory and speech performanceCochlear implantationGenotype–phenotype correlationHearing lossLEOPARD syndromeNoonan syndromePTPN11RASopathies

Identifiers

PMID41786942
PMCPMC13152949

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.