Recurrent de novo missense variant E210K in UBTF causes juvenile dystonia-parkinsonism
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LETTER TO THE EDITOR
Recurrent de novo missense variant E210K in UBTF causes juvenile dystonia-parkinsonism Chizuru Ikeda 1 & Toshitaka Kawarai 2
&
Chisa Setoyama 3 & Antonio Orlacchio 4,5 & Hoseki Imamura 1
Received: 30 May 2020 / Accepted: 23 September 2020 # Fondazione Società Italiana di Neurologia 2020
Dear Editor, Upstream binding transcription factor gene (UBTF) encodes the upstream binding transcription factor (UBF), which plays a vital role in regulating the upstream control element to generate ribosomal RNA (rRNA) transcripts via assembly of the transcription initiation complex including SL1 and PolI [1]. The missense variant, E210K, in UBTF has been reported in at least 13 cases, twelve cases from Western countries and one case from Pakistan, showing CONDBA (Childhood Onset, Neurodegeneration with Brain Atrophy) (OMIM 617672) [2–5]. We herein report a Japanese case with developmental delay and regression from infancy to adolescence, showing extrapyramidal movement disorder and profound intellectual disability.
Chizuru Ikeda and Toshitaka Kawarai contributed equally to this work. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10072-020-04758-y) contains supplementary material, which is available to authorized users. * Toshitaka Kawarai [email protected] 1
Department of Paediatrics, National Hospital Organization, Kumamoto Saishun Medical Center, Koshi, Kumamoto 861-1196, Japan
2
Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15, Kuramoto-cho, Tokushima 770-0042, Japan
3
Faculty of Medicine-Student Laboratory, Tokushima University Graduate School, Tokushima, Japan
4
Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Fondazione Santa Lucia, Rome, Italy
5
Dipartimento di Scienze Chirurgiche e Biomediche, Università di Perugia, Perugia, Italy
Case description The patient is a 19-year-old girl born to healthy nonconsanguineous parents. The perinatal course was uneventful. Developmental delay was noticed at 2 years and afterwards. She took her first step and produced one or two words with meaning at the age of 1. She was unable to perform any dayto-day activity requiring fine dexterity with hands. At the age of 6, delayed speech development, stuttering, and motor clumsiness were noted, but she could go to elementary school alone. Later, she showed unsteadiness of gait, stumbling, and occasional falling. At the age of 7, she was transferred to a school for handicapped children. At the age of 10, she began to show dystonic posture at the neck with a bending forward position. The Tanaka-Binet Intelligence Scale revealed that her equivalent mental age was that of a 2-yearold. Ophthalmologic examination showed no abnormal findings, including cherry-red spot and optic atrophy. She showed cardinal features of parkinsonism in her early teens, including bilateral bradykinesia, reduced facial expre
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