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Objectives <p>We characterized the clinical features of <i>PTPN11</i>-related deafness and evaluated the outcomes of cochlear implantation in affected patients.</p> Methods <p>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 <i>PTPN11</i> variants were reviewed for their clinical characteristics and post-implantation auditory rehabilitation outcomes.</p> Results <p><i>PTPN11</i> variants were identified in four patients (Cases 1–4). A missense variant c.1391G &gt; C (p.Gly464Ala) in exon 12 was detected in Case 1 and the recurrent variant c.836A &gt; 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 &gt; G (p.Met504Val) in exon 13 and c.923A &gt; 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.</p> Conclusion <p>Our study provides a comprehensive characterization of auditory, speech and systemic phenotypes in <i>PTPN11</i>-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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月5日

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

摘要

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 characteristics and post-implantation auditory rehabilitation outcomes.

Results

PTPN11 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.

Conclusion

Our 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.