Scholarlink

Background <p>Syndromic hearing loss and progressive myoclonic epilepsy are distinct genetic disorders with well-established genes implicated. SLC26A4 is commonly associated with hearing loss, including Pendred syndrome, while KCTD7 is linked to PME, characterized by intractable seizures, cognitive regression, and ataxia. The co-occurrence of these two conditions in a single patient has not been previously reported.</p> Case presentation <p>We describe a 2-year-old boy presenting with bilateral severe-to-profound hearing loss, progressive myoclonic epilepsy, and global developmental delay. Whole exome sequencing revealed homozygous pathogenic and uncertain variants in SLC26A4 (c.1337A &gt; G, p.Gln446Arg) and KCTD7 (c.766G &gt; A, p.Gly256Ser), respectively. This is the first reported case of a patient with dual pathogenic and VUS variants in these genes, presenting with a novel combined phenotype. The patient showed partial seizure control with a regimen of clobazam, levetiracetam, and ACTH therapy. Notably, his auditory responses improved following seizure management, suggesting a possible interaction between epilepsy and auditory function.</p> Conclusion <p>This case highlights the importance of comprehensive genetic evaluation in patients with overlapping neurodevelopmental disorders. The co-occurrence of SLC26A4 and KCTD7 variants suggests a potential novel phenotype requiring further investigation. Functional studies and long-term follow-up are needed to assess the pathogenicity of the KCTD7 variant and its clinical significance in progressive myoclonic epilepsy.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Novel co-occurrence of SLC26A4 and KCTD7 variants in a pediatric patient with syndromic hearing loss and myoclonic epilepsy

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年6月20日

查看全文
  • Fakhreddin Shariatmadari,
  • Amir Mahdi Mohamadi Kamal,
  • Arshia Mobini,
  • Shiva Bayat,
  • Zahra Rezaei,
  • Reza Shervin Badv,
  • Mahmoud Mohammadi,
  • Hossein Yousefimanesh

摘要

Background

Syndromic hearing loss and progressive myoclonic epilepsy are distinct genetic disorders with well-established genes implicated. SLC26A4 is commonly associated with hearing loss, including Pendred syndrome, while KCTD7 is linked to PME, characterized by intractable seizures, cognitive regression, and ataxia. The co-occurrence of these two conditions in a single patient has not been previously reported.

Case presentation

We describe a 2-year-old boy presenting with bilateral severe-to-profound hearing loss, progressive myoclonic epilepsy, and global developmental delay. Whole exome sequencing revealed homozygous pathogenic and uncertain variants in SLC26A4 (c.1337A > G, p.Gln446Arg) and KCTD7 (c.766G > A, p.Gly256Ser), respectively. This is the first reported case of a patient with dual pathogenic and VUS variants in these genes, presenting with a novel combined phenotype. The patient showed partial seizure control with a regimen of clobazam, levetiracetam, and ACTH therapy. Notably, his auditory responses improved following seizure management, suggesting a possible interaction between epilepsy and auditory function.

Conclusion

This case highlights the importance of comprehensive genetic evaluation in patients with overlapping neurodevelopmental disorders. The co-occurrence of SLC26A4 and KCTD7 variants suggests a potential novel phenotype requiring further investigation. Functional studies and long-term follow-up are needed to assess the pathogenicity of the KCTD7 variant and its clinical significance in progressive myoclonic epilepsy.