新規<i>PAX3</i>遺伝子変異にて発症したワールデンブルグ症候群タイプ1例

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  • A Case of Waardenburg Syndrome Type 1 Caused by a Novel Mutation in <i>PAX3</i>
  • 新規PAX3遺伝子変異にて発症したワールデンブルグ症候群タイプ1例
  • シンキ PAX3 イデンシ ヘンイ ニテ ハッショウ シタ ワールデンブルグ ショウコウグン タイプ 1レイ
  • A Case of Waardenburg Syndrome Type 1 Caused by a Novel Mutation in PAX3

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Waardenburg syndrome (WS) type 1 is an autosomal dominantly inherited disorder characterized by hypopigmented iridis, dystopia canthorum, hair hypopigmentation and sensorineural hearing loss. WS type 1 is caused by mutations of PAX3, in which approximately 70 mutations have identified worldwide.<br> A 66-year-old male was referred to our hospital with the complaint of bilateral hearing loss. He showed bilateral hypopigmented iridis, dystopia canthorum and profound sensorineural hearing loss. Though he had no family members with characteristic features of WS, he was diagnosed as having WS type 1 on the basis of the clinical findings. The mutation analysis of the patient revealed a novel insertion mutation c.239_240insA (p.His80GlnfsX33) in PAX3.<br> Though we could not perform a segregation analysis due to the difficulties of collecting family samples, we estimate that the presence of WS in our current patient was caused by a de novo PAX3 mutation. As the cause in a few patients with WS type 1 has been reported to be de novo PAX3 mutations, it might be necessary to remember that all patients with WS type 1 have not inherited the disease in an autosomal dominant manner.<br>

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