論文

査読有り
2018年12月

Schuurs-Hoeijmakers syndrome in two patients from Japan

American journal of medical genetics. Part A
  • Hoshino, Yusuke
  • ,
  • Enokizono, Takashi
  • ,
  • Imagawa, Kazuo
  • ,
  • Tanaka, Ryuta
  • ,
  • Suzuki, Hisato
  • ,
  • Fukushima, Hiroko
  • ,
  • Arai, Junichi
  • ,
  • Sumazaki, Ryo
  • ,
  • Uehara, Tomoko
  • ,
  • Takenouchi, Toshiki
  • ,
  • Kosaki, Kenjiro

179
3
開始ページ
341
終了ページ
343
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1002/ajmg.a.9
出版者・発行元
WILEY

Schuurs-Hoeijmakers syndrome is a rare disease characterized by intellectual disability and dysmorphic facial features among various physical abnormalities due to PACS1 mutation. To date, 28 patients with a recurrent de novo PACS1 mutation (c.607C > T) have been reported, primarily in Western populations. Here, we describe two Japanese patients with Schuurs-Hoeijmakers syndrome with a recurrent PACS1 mutation. In addition to the typical clinical symptoms, each patient presented novel clinical phenotypes. One patient presented with involuntary movements and was treated with trihexyphenidyl hydrochloride. We hypothesized that the PACS1 mutation leads to an inherent dopaminergic insufficiency that underlies the developing symptoms along with the neurodevelopmental processes. The second patient was diagnosed with lipomyelomeningocele during an examination for severe constipation at the age of 2 years and 8 months. The diagnosis of lipomyelomeningocele in this patient was delayed due to the lack of cutaneous lesions. As the majority of patients with PACS1 mutation present constipation, underdiagnosis of lipomyelomeningocele is a possibility. As the phenotypic expansion of the pati

リンク情報
DOI
https://doi.org/10.1002/ajmg.a.9