A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly

• Seto Toshiyuki

  Department of Pediatrics, Osaka City University

• Hamazaki Takashi

  Department of Pediatrics, Osaka City University

• Nishigaki Satsuki

  Department of Pediatrics, Osaka City University

• Kudo Satoshi

  Department of Pediatrics, Osaka City University

• Shintaku Haruo

  Department of Pediatrics, Osaka City University

• Ondo Yumiko

  Institute of Medical Genetics, Tokyo Women’s Medical University

• Shimojima Keiko

  Institute of Medical Genetics, Tokyo Women’s Medical University

• Yamamoto Toshiyuki

  Institute of Medical Genetics, Tokyo Women’s Medical University

書誌事項

タイトル別名

• A novel <i>CASK</i> mutation identified in siblings exhibiting developmental disorders with/without microcephaly

抄録

The calcium/calmodulin-dependent serine protein kinase gene (CASK) mutations are associated with various neurological disorders; a syndrome of intellectual disability (ID) and microcephaly with pontine and cerebellar hypoplasia (MICPCH), FG syndrome, X-linked ID with/without nystagmus, epileptic encephalopathy, and autistic spectrum disorder (ASD). Next generation sequencing was performed to elucidate genetic causes in siblings exhibiting developmental disorders, and a novel CASK mutation, c.1424G>T (p.Ser475Ile), was detected in a male patient with ID, ASD, and microcephaly. Radiological examination of his brain showed no structural abnormality. The identified mutation was shared with the healthy mother and a younger sister exhibiting ASD. Although the mother showed a skewed X-chromosome inactivation (XCI) pattern, the sister showed a paradoxical XCI pattern. This would explain why this sister possessed a normal intellectual level, but showed the same ASD symptoms as the affected brother. A novel CASK mutation was identified in two siblings with ID and/or ASD, suggesting a relationship between the CASK mutation and ASD. Recently performed large molecular cohorts for patients with developmental disorders suggest that CASK is one of the genes related to developmental disorders. For better understanding of genotype-phenotype correlation in ASD cases with CASK mutations, more information should be accumulated.

収録刊行物

• Intractable & Rare Diseases Research

  Intractable & Rare Diseases Research 6 (3), 177-182, 2017

  特定非営利活動法人 バイオ＆ソーシャル・サイエンス推進国際研究交流会

キーワード

• Autism
• X-chromosome inactivation
• next generation sequencing
• obligate carrier
• manifesting carrier

詳細情報

• CRID: 1390282680522873344
• NII論文ID: 130006078836
• DOI: 10.5582/irdr.2017.01031
• ISSN: 2186361X
• ISSN: 21863644
• Web Site: https://www.jstage.jst.go.jp/article/irdr/6/3/6_2017.01031/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2018195175
• 本文言語コード: en
• データソース種別:
  • JaLC
  • Crossref
  • CiNii Articles
  • KAKEN
• 抄録ライセンスフラグ: 使用不可