title: Kabuki make-up (Niikawa-Kuroki) syndrome with mosaicism ring chromosome X and incomplete XIST gene expression.
abstract: Kabuki make-up syndrome (Niikawa-Kuroki syndrome) is a rare congenital disorder of unknown etiology characterized by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatologic patterns. The latter include long palpebral fissures, broad eye brows sparse in the lateral half, prominent eyelashes, lower lateral palpebral ertropia, and depressed nasal tips. We describe a 13-year-old girl with short stature, delayed puberty, mental retardation, and typical face characteristics of Kabuki make-up syndrome. High-resolution banding chromosome analysis revealed a mos 45,X/46,X,r(X) karyotype. Fluorescence in situ hybridization detected a positive XIST gene signal. XIST expression was demonstrated by reverse transcription polymerase chain reaction using primers spanning exons 2, 3, 4, 5 in RNA prepared from lymphocytes. To our knowledge, this is the first description of Kabuki syndrome manifestation with r(X) and XIST expression in Taiwan.
authors: Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.
authors: Pen-Hua
authors: PH
authors: Su
authors: Pao-Lin
authors: PL
authors: Kuo
authors: Suh-Jen
authors: SJ
authors: Chen
authors: Jia-Yuh
authors: JY
authors: Chen
authors: Ju-Shan
authors: JS
authors: Yu
authors: Yuh-Ling
authors: YL
authors: Liu
authors: I-Wen
authors: IW
authors: Kao
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D009030:Mosaicism; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated / Q000235:genetics*; D012303:Ring Chromosomes; D012729:Sex Chromosome Aberrations; D013577:Syndrome
chemical_list: D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; C077885:XIST non-coding RNA