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Preaxial polydactyly in an individual with Wiedemann‐Steiner syndrome caused by a novel nonsense mutation in KMT2A
Author(s) -
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
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38405
Subject(s) - polydactyly , nonsense mutation , nonsense , genetics , mutation , medicine , biology , missense mutation , gene
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.