Delineation of clinical features in Wiedemann–Steiner syndrome caused by KMT2A mutations |
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| Authors: | N. Miyake Y. Tsurusaki E. Koshimizu N. Okamoto T. Kosho N.J. Brown T.Y. Tan P.J.J. Yap H. Suzumura T. Tanaka T. Nagai M. Nakashima H. Saitsu N. Niikawa N. Matsumoto |
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| Affiliation: | 1. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan;2. Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan;3. Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan;4. Department of Clinical Genetics, Austin Health, Heidelberg, Australia;5. Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia;6. Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia;7. Department of Pediatrics, Dokkyo Medical University, Tochigi, Japan;8. Department of Pediatrics and Clinical research, National Hospital Organization Hokkaido Medical Center, Sapporo, Japan;9. Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Saitama, Japan;10. Health Science University of Hokkaido, Hokkaido, Japan |
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| Abstract: | Wiedemann–Steiner syndrome (WSS) is an autosomal dominant congenital anomaly syndrome characterized by hairy elbows, dysmorphic facial appearances (hypertelorism, thick eyebrows, downslanted and vertically narrow palpebral fissures), pre‐ and post‐natal growth deficiency, and psychomotor delay. WSS is caused by heterozygous mutations in KMT2A (also known as MLL), a gene encoding a histone methyltransferase. Here, we identify six novel KMT2A mutations in six WSS patients, with four mutations occurring de novo. Interestingly, some of the patients were initially diagnosed with atypical Kabuki syndrome, which is caused by mutations in KMT2D or KDM6A, genes also involved in histone methylation. KMT2A mutations and clinical features are summarized in our six patients together with eight previously reported patients. Furthermore, clinical comparison of the two syndromes is discussed in detail. |
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| Keywords: | clinical comparison Kabuki syndrome KDM6A KMT2A KMT2D Wiedemann– Steiner syndrome |
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