Schuurs-Hoeijmakers syndrome in two patients from Japan

Yusuke Hoshino, Takashi Enokizono, Kazuo Imagawa, Ryuta Tanaka, Hisato Suzuki, Hiroko Fukushima, Junichi Arai, Ryo Sumazaki, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)


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 patients with Schuurs-Hoeijmakers syndrome was not fully recognized, additional studies are needed to clarify the clinical spectrum.

Original languageEnglish
Pages (from-to)341-343
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Issue number3
Publication statusPublished - 2019 Mar


  • PACS1
  • Schuurs-Hoeijmakers syndrome
  • c.607C > T
  • lipomyelomeningocele

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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