title: Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
abstract: Wiedemann-Steiner syndrome is a rare genetic disorder characterized by short stature, hairy elbows, facial dysmorphism, and developmental delay. It can also be accompanied by musculoskeletal anomalies such as muscular hypotonia and small hands and feet. Mutations in the KMT2A gene have only recently been identified as the cause of Wiedemann-Steiner syndrome; therefore, only 16 patients from 15 families have been described, and new phenotypic features continue to be added. In this report, we describe 2 newly identified patients with Wiedemann-Steiner syndrome who presented with variable severity. One girl exhibited developmental dysplasia of the hip and fibromatosis colli accompanied by other clinical features, including facial dysmorphism, hypertrichosis, patent ductus arteriosus, growth retardation, and borderline intellectual disability. The other patient, a boy, showed severe developmental retardation with automatic self-mutilation, facial dysmorphism, and hypertrichosis at a later age. Exome sequencing analysis of these patients and their parents revealed a de novo nonsense mutation, p.Gln1978*, of KMT2A in the former, and a missense mutation, p.Gly1168Asp, in the latter, which molecularly confirmed the diagnosis of Wiedemann-Steiner syndrome.
authors: 1 Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors: Jung
authors: J
authors: Min Ko
authors: 1 Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors: Jae So
authors: JS
authors: Cho
authors: 2 Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
authors: Yongjin
authors: Y
authors: Yoo
authors: 2 Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
authors: Jieun
authors: J
authors: Seo
authors: 2 Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
authors: Murim
authors: M
authors: Choi
authors: 1 Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors: Jong-Hee
authors: JH
authors: Chae
authors: 3 Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, Korea.
authors: Hye-Ran
authors: HR
authors: Lee
authors: 3 Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, Korea.
authors: Tae-Joon
authors: TJ
authors: Cho
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005542:Forearm / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000235:genetics; D006618:Hip Dislocation, Congenital / Q000235:genetics*; D011495:Histone-Lysine N-Methyltransferase / Q000235:genetics*; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000235:genetics*; D009154:Mutation; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D013577:Syndrome
chemical_list: C497422:KMT2A protein, human; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase
keywords: KMT2A; Wiedemann-Steiner syndrome; congenital hip dislocation; fibromatosis colli; psychomotor retardation