Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A

Takashi Enokizono, Tatsuyuki Ohto, Ryuta Tanaka, Mai Tanaka, Hisato Suzuki, Aiko Sakai, Kazuo Imagawa, Hiroko Fukushima, Atsushi Iwabuti, Takashi Fukushima, Ryo Sumazaki, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Wiedemann-Steiner syndrome (WDSTS) is an autosomal dominant disorder characterized by hypertrichosis, intellectual disability, and dysmorphic facial appearances (down-slanted vertically narrow palpebral fissures, wide nasal bridge, broad nasal tip, and thick eyebrows). In 2012, Jones and co-workers identified heterozygous mutations in KMT2A (lysine methyltransferase 2A) as the molecular cause of WDSTS. Although the phenotype of this syndrome continues to expand, the associated features are not fully understood. Here, we report WDSTS in a 12-year-old Japanese boy with a novel nonsense mutation in KMT2A. He had right preaxial polydactyly, which has not been previously reported in WDSTS. We could not identify a causal relationship between the KMT2A mutation and preaxial polydactyly, and cannot exclude the preaxial polydactyly is a simple coincidence. We summarized the clinical features of WDSTS associated with KMT2A mutation and discussed the cardinal symptoms in detail.

Original languageEnglish
Pages (from-to)2821-2825
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number10
DOIs
Publication statusPublished - 2017 Oct

Keywords

  • KMT2A
  • Wiedemann-Steiner syndrome
  • preaxial polydactyly

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Enokizono, T., Ohto, T., Tanaka, R., Tanaka, M., Suzuki, H., Sakai, A., Imagawa, K., Fukushima, H., Iwabuti, A., Fukushima, T., Sumazaki, R., Uehara, T., Takenouchi, T., & Kosaki, K. (2017). Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A. American Journal of Medical Genetics, Part A, 173(10), 2821-2825. https://doi.org/10.1002/ajmg.a.38405