Preaxial polydactyly in an individual with Wiedemann‐Steiner syndrome caused by a novel nonsense mutation in KMT2A. Issue 10 (16th August 2017)

• Record Type: Journal Article
• Authors: Enokizono, Takashi; Ohto, Tatsuyuki; Tanaka, Ryuta; Tanaka, Mai; Suzuki, Hisato; Sakai, Aiko; Imagawa, Kazuo; Fukushima, Hiroko; Iwabuti, Atsushi; Fukushima, Takashi; Sumazaki, Ryo; Uehara, Tomoko; Takenouchi, Toshiki; Kosaki, Kenjiro
• Is Part Of: American journal of medical genetics. Volume 173:Issue 10(2017)
• Page Start: 2821
• Page End: 2825
• Publication Date: 2017-08-16
• Subjects: KMT2A -- preaxial polydactyly -- Wiedemann‐Steiner syndrome; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38405
• Languages: English
• ISSNs: 1552-4825

Abstract

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.