title: Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
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.
authors: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors: N
authors: N
authors: Miyake
authors: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors: Y
authors: Y
authors: Tsurusaki
authors: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors: E
authors: E
authors: Koshimizu
authors: Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan.
authors: N
authors: N
authors: Okamoto
authors: Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
authors: T
authors: T
authors: Kosho
authors: Department of Clinical Genetics, Austin Health, Heidelberg, Australia.|Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
authors: N J
authors: NJ
authors: Brown
authors: Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.|Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia.
authors: T Y
authors: TY
authors: Tan
authors: Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
authors: P J J
authors: PJ
authors: Yap
authors: Department of Pediatrics, Dokkyo Medical University, Tochigi, Japan.
authors: H
authors: H
authors: Suzumura
authors: Department of Pediatrics and Clinical research, National Hospital Organization Hokkaido Medical Center, Sapporo, Japan.
authors: T
authors: T
authors: Tanaka
authors: Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Saitama, Japan.
authors: T
authors: T
authors: Nagai
authors: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors: M
authors: M
authors: Nakashima
authors: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors: H
authors: H
authors: Saitsu
authors: Health Science University of Hokkaido, Hokkaido, Japan.
authors: N
authors: N
authors: Niikawa
authors: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors: N
authors: N
authors: Matsumoto
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D059472:Exome; D005260:Female; D056426:Genetic Loci; D059014:High-Throughput Nucleotide Sequencing; D011495:Histone-Lysine N-Methyltransferase / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D010641:Phenotype
chemical_list: C497422:KMT2A protein, human; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase
keywords: KDM6A; KMT2A; KMT2D; Kabuki syndrome; Wiedemann-Steiner syndrome; clinical comparison