Journal article

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations

N Miyake, Y Tsurusaki, E Koshimizu, N Okamoto, T Kosho, NJ Brown, TY Tan, PJJ Yap, H Suzumura, T Tanaka, T Nagai, M Nakashima, H Saitsu, N Niikawa, N Matsumoto



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. K..

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Funding Acknowledgements

We thank Dr Michelle Fink and Dr Simone Mandelstam who are Specialist Paediatric Radiologists at The Royal Children's Hospital in Melbourne, Australia for their evaluation of the brain imaging of Patient 3. This work is supported by grants from the Ministry of Health, Labour and Welfare (H. S., N. M., and N. M.), the Japan Society for the Promotion of Science [a Grant-in-Aid for Scientific Research (B) (H. S. and N. M.), a Grant-in-Aid for Scientific Research (A) (N. M.)], the fund for Creation of Innovation Centers for Advanced Interdisciplinary Research Areas Program in the Project for Developing Innovation Systems from the Japan Science and Technology Agency (N. M.), the Strategic Research Program for Brain Sciences (N. M.), a Grant-in-Aid for Scientific Research on Innovative Areas (Transcription Cycle) from the Ministry of Education, Culture, Sports, Science and Technology of Japan (N. M. and N. M.), a Grant-in-Aid for challenging Exploratory Research (H. S.), and the Takeda Science Foundation (H. S., N. M., and N. M.).